Porfirinas

PORFIRINAS

Informação geral

Textos

http://ghr.nlm.nih.gov/condition=porphyria;jsessionid=3CC7797A77A0281BD887AE9973490E47

http://www.nlm.nih.gov/medlineplus/porphyria.html

http://www.mayoclinic.org/diseases-conditions/porphyria/basics/definition/con-20028849?METHOD=print

http://www.thedoctorsdoctor.com/diseases/porphyria.htm

http://www.mayoclinic.org/diseases-conditions/porphyria/basics/symptoms/con-20028849

http://www.localhealth.com/article/porphyria/symptoms

http://en.wikipedia.org/wiki/Porphyria

http://www.porphyriafoundation.com/about-porphyria

http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/porphyria/Pages/facts.aspx

http://www.webmd.com/a-to-z-guides/porphyria-symptoms-causes-treatment

https://www.genome.gov/19016728

http://www.patient.co.uk/doctor/porphyrias

http://www.mountsinai.org/patient-care/health-library/diseases-and-conditions/porphyria

http://www.medicalnewstoday.com/articles/318409.php?utm_source=newsletter&utm_medium=email&utm_campaign=weekly-hcp

Dieta para as porfirias

http://www.porphyriafoundation.com/about-porphyria/diet-and-nutrition

http://www.porphyriafoundation.com/about-porphyria/diet-and-nutrition/diet-information-for-all-porphyrias

http://www.porphyriafoundation.com/about-porphyria/diet-and-nutrition/the-glucose-effect-in-acute-porphyria

http://www.porphyriafoundation.com/about-porphyria/diet-and-nutrition/nutrition-in-the-acute-porphyrias

http://www.porphyria.org.uk/?page_id=223

http://www.livestrong.com/article/530519-foods-that-heal-acute-intermittent-porphyria/

Medicamentos e porfirias

http://www.porphyriafoundation.com/drug-database

http://www.porphyria.org.uk/Assets/BPA%20leaflet%20drugs.pdf

http://porphyriadrugs.com/

http://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/porphyrias/acute-porphyrias

http://albertaporphyriasociety.weebly.com/drug-safety-databases.html

Surtos de porfiria

http://www.mayoclinic.org/diseases-conditions/porphyria/basics/symptoms/con-20028849

http://www.drugs.com/cg/acute-porphyria.html

http://www.mayoclinic.org/diseases-conditions/porphyria/basics/symptoms/con-20028849

http://www.drugs.com/cg/acute-porphyria.html

Tratamento

http://www.porphyriafoundation.com/treatment

http://www.mayoclinic.org/diseases-conditions/porphyria/basics/treatment/con-20028849

http://emedicine.medscape.com/article/205220-treatment

Informação especializada

Anemia sideroblastica ligada ao X

http://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia

http://www.omim.org/entry/300751

http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=75563

http://www.enerca.org/anaemias/72/x-linked-sideroblastic-anaemia-gene-alas2

http://www.bloodjournal.org/content/bloodjournal/84/11/3915.full.pdf?sso-checked=true

Coproporfiria hereditária

http://ghr.nlm.nih.gov/condition/porphyria

http://en.wikipedia.org/wiki/Hereditary_coproporphyria

http://hmg.oxfordjournals.org/content/14/20/3089.full

http://emedicine.medscape.com/article/205374-overview

https://www.rarediseasesnetwork.org/porphyrias/patients/HCP/

http://www.omim.org/entry/121300

http://www.uptodate.com/contents/hereditary-coproporphyria

Deficiencia em ALA  deidrase

http://emedicine.medscape.com/article/198248-overview

http://en.wikipedia.org/wiki/Porphobilinogen_synthase#Deficiency

https://www.rarediseasesnetwork.org/porphyrias/patients/ADP/

http://www.uptodate.com/contents/ala-dehydratase-porphyria

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100924

http://www.clinchem.org/content/44/9/1892.full

http://www.omim.org/entry/612740

http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/88924

http://themedicalbiochemistrypage.org/adp.php

Doença de Gunther

Ver Porfiria eritropoietica congenita

Porfirias agudas

Ver Surtos de hepatite

Porfiria de Chester

 http://emedicine.medscape.com/article/205314-overview

Porfiria cutânea tarda

http://en.wikipedia.org/wiki/Porphyria_cutanea_tarda

http://emedicine.medscape.com/article/1103643-overview

http://www.dermnetnz.org/systemic/porphyria-cutanea-tarda.html

http://www.merckmanuals.com/home/hormonal-and-metabolic-disorders/porphyrias/porphyria-cutanea-tarda

http://www.medicalnewstoday.com/articles/318543.php?utm_source=newsletter&utm_medium=email&utm_campaign=daily-hcp

Porfiria eritropoietica congénita

 http://en.wikipedia.org/wiki/Gunther_disease

http://emedicine.medscape.com/article/1103274-overview

http://www.ncbi.nlm.nih.gov/books/NBK154652/

http://www.britishskinfoundation.org.uk/SkinInformation/AtoZofSkindisease/CongenitalErythropoieticPorphyria.aspx

http://www.omim.org/entry/263700

Porfiria hepatoeritropoietica

http://www.ncbi.nlm.nih.gov/books/NBK169003/

http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=95159

http://www.uptodate.com/contents/porphyria-cutanea-tarda-and-hepatoerythropoietic-porphyria

Porfiria intermitente aguda

http://en.wikipedia.org/wiki/Acute_intermittent_porphyria

http://emedicine.medscape.com/article/205220-overview

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP

https://www.rarediseasesnetwork.org/porphyrias/patients/AIP/

http://www.merckmanuals.com/home/hormonal-and-metabolic-disorders/porphyrias/acute-intermittent-porphyria

http://www.omim.org/entry/176000

Porfiria variegata

http://en.wikipedia.org/wiki/Variegate_porphyria

http://www.omim.org/entry/176200

http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=79473~

http://emedicine.medscape.com/article/1103846-overview

http://www.ncbi.nlm.nih.gov/books/NBK121283/

http://www.uptodate.com/contents/variegate-porphyria

http://www.dermnetnz.org/systemic/variegate-porphyria.html

Protoporfiria eritropoietica

http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria

http://dermnetnz.org/systemic/erythropoeitic-protoporphyria.html

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/EPP

http://emedicine.medscape.com/article/1104061-overview

http://www.omim.org/entry/177000

http://www.britishskinfoundation.org.uk/SkinInformation/AtoZofSkindisease/ErythropoieticProtoporphyria.aspx

http://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/porphyrias/erythropoietic-protoporphyria

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/EPP

Protoporfiria ligada ao X

https://www.rarediseasesnetwork.org/porphyrias/professionals/EPP/index.htm

http://www.ncbi.nlm.nih.gov/books/NBK121284/

http://asheducationbook.hematologylibrary.org/content/2012/1/19.full.pdf

http://emedicine.medscape.com/article/1104061-overview

Bilirubina

BILIRRUBINA

Crigler- Najaar

http://rarediseases.about.com/od/rarediseasesc/a/021305.htm

http://en.wikipedia.org/wiki/Crigler%E2%80%93Najjar_syndrome

http://www.patient.co.uk/doctor/crigler-najjar-syndrome

http://emedicine.medscape.com/article/173517-overview

http://www.nlm.nih.gov/medlineplus/ency/article/001127.htm

http://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome

http://www.omim.org/entry/606785

http://www.omim.org/entry/218800

http://www.chp.edu/CHP/crigler-najjar+syndrome

http://www.uptodate.com/contents/crigler-najjar-syndrome

Dubin – Johnson

http://en.wikipedia.org/wiki/Dubin%E2%80%93Johnson_syndrome

http://emedicine.medscape.com/article/173517-overview

Erros na síntese dos ácidos biliares

http://www.rightdiagnosis.com/m/malabsorption_due_to_bile_acid_synthesis_defects_idiopathic/intro.htm

http://ajpgi.physiology.org/content/284/4/G551

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79301

https://www.orpha.net/data/patho/Pro/en/InbornErrorsBileAcidMetabolism-FRenPro11194v01.pdf

http://www.omim.org/entry/607765

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79168

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3296980/

Gilbert

http://www.patient.co.uk/health/gilberts-syndrome-leaflet

http://en.wikipedia.org/wiki/Gilbert%27s_syndrome

http://www.gilbertssyndrome.com/

http://emedicine.medscape.com/article/178841-overview

http://www.mayoclinic.org/diseases-conditions/gilberts-syndrome/basics/definition/con-20024904

http://emedicine.medscape.com/article/173517-overview

http://www.nlm.nih.gov/medlineplus/ency/article/000242.htm

http://www.patient.co.uk/doctor/dubin-johnson-syndrome

http://www.omim.org/entry/237500

http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=234

http://www.rightdiagnosis.com/d/dubin_johnson_syndrome/intro.htm

Lucey – Driscoll

http://www.rightdiagnosis.com/medical/lucey_driscoll_syndrome.htm

http://www.omim.org/entry/237900

http://rarediseases.info.nih.gov/gard/3304/lucey-driscoll-syndrome/case/28512/case-questions

Rotor

http://www.patient.co.uk/doctor/Rotor's-Syndrome.htm

http://www.rightdiagnosis.com/medical/rotor_syndrome.htm

http://en.wikipedia.org/wiki/Rotor_syndrome

http://ghr.nlm.nih.gov/condition/rotor-syndrome

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3111

http://themedicalbiochemistrypage.org/rotor-syndrome.php

http://www.omim.org/entry/237450

Hemoglobinoses

HEMOGLOBINOSES

Informação geral

Textos

http://sickle.bwh.harvard.edu/hemoglobinopathy.html

http://en.wikipedia.org/wiki/Hemoglobinopathy

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163784/

http://www.kdheks.gov/newborn_screening/download/parent_info/Hb_Parent_Handout.pdf

http://health.mo.gov/living/families/genetics/newbornscreening/pdf/SickleCellquickfacts.pdf

http://web2.airmail.net/uthman/hemoglobinopathy/hemoglobinopathy.html

Informação especializada

Anemia de células falciformes

http://webcorvasossangue.blogspot.pt/2016/02/anemias.html

Drepanocitose

http://webcorvasossangue.blogspot.pt/2016/02/anemias.html

Hemoglobina Barts

Ver Talassemia alfa

Hemoglobinose C

http://emedicine.medscape.com/article/200853-overview

http://en.wikipedia.org/wiki/Hemoglobin_C

http://www.nlm.nih.gov/medlineplus/ency/article/000572.htm

http://www.stjude.org/stjude/v/index.jsp?vgnextoid=f1b0db6324d6f110VgnVCM1000001e0215acRCRD

https://www.orpha.net/data/patho/GB/uk-HbC.pdf

Hemoglobina F - persistência hereditária

http://en.wikipedia.org/wiki/Hereditary_persistence_of_fetal_hemoglobin

http://www.uptodate.com/contents/fetal-hemoglobin-hemoglobin-f-in-health-and-disease

http://www.omim.org/entry/141749

http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/8270

http://hmg.oxfordjournals.org/content/18/R2/R216.full

http://www.chime.ucl.ac.uk/APoGI/data/pdf/hb/carriers/b/pfh/carbook.pdf

Hemoglobina H

http://www.omim.org/entry/613978

http://www.cdph.ca.gov/programs/nbs/Pages/NBSHemoglobinHDisease.aspx

http://www.cdph.ca.gov/programs/nbs/Documents/NBS-ParentsHbH_Oct99.pdf

Hemoglobina H Constant Springs

http://www.bloodjournal.org/content/89/5/1762?sso-checked=true

Hemoglobinose M

Ver Metahemoglobinemia

Hemoglobinose SC

http://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/hemoglobin-s-c-disease

http://www.haematologica.org/content/97/8/1136

http://www.healthline.com/health/sickle-cell-anemia#Overview1

http://www.babysfirsttest.org/newborn-screening/conditions/s-c-disease

Metahemoglobinemia

http://en.wikipedia.org/wiki/Methemoglobinemia

http://www.nlm.nih.gov/medlineplus/ency/article/000562.htm

http://emedicine.medscape.com/article/204178-overview

http://www.uptodate.com/contents/clinical-features-diagnosis-and-treatment-of-methemoglobinemia

http://www.rightdiagnosis.com/medical/hemoglobin_m_disease.htm

http://www.aefa.es/wp-content/uploads/2014/04/Causes-and-clinical-significance-of-increased-methemoglobin.pdf

Talassemias

http://webcorvasossangue.blogspot.pt/2016/02/anemias.html

Leucodistrofias

LEUCODISTROFIAS

Directories

http://www.nlm.nih.gov/medlineplus/leukodystrophies.html

Textos

http://en.wikipedia.org/wiki/Leukodystrophy

http://www.joejohnson.net/leukodystrophy_connections.htm

http://ulf.org/what-is-leukodystrophy

http://en.wikipedia.org/wiki/Leukodystrophy

http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm

http://pubs.rsna.org/doi/full/10.1148/radiographics.22.3.g02ma01461

Adrenoleucodistrofias

Directorios

http://www.x-ald.nl/

Textos

http://en.wikipedia.org/wiki/Adrenoleukodystrophy

http://rarediseases.about.com/cs/ald/a/041301.htm

http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm

http://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy

http://www.cmaj.ca/content/171/9/1073.full

http://www.rightdiagnosis.com/a/adrenomyeloneuropathy/intro.htm

http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm

http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm

http://www.stopald.org/what-is-ald/

http://www.healthline.com/health/adrenoleukodystrophy#Description1

http://ulf.org/adrenoleukodystrophy

http://www.mayoclinic.org/diseases-conditions/adrenoleukodystrophy/basics/definition/con-20028957

http://www.omim.org/entry/300100

Adrenoleucodistrofia neonatal

http://omim.org/entry/202370

Adrenomieloneuropatia

Ver adrenoleucodistrofia

Aicardi- Gouthieres

http://ulf.org/aicardi-goutieres-syndrome

http://en.wikipedia.org/wiki/Aicardi%E2%80%93Gouti%C3%A8res_syndrome

http://www.ncbi.nlm.nih.gov/books/NBK1475/

http://www.omim.org/entry/225750

http://www.brainfacts.org/diseases-disorders/diseases-a-to-z-from-ninds/aicardi-goutieres-syndrome-disorder/

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=51

http://bmb.oxfordjournals.org/content/89/1/183.full

Alexander

http://en.wikipedia.org/wiki/Alexander_disease

http://ghr.nlm.nih.gov/condition/alexander-disease

http://ulf.org/alexander-disease

http://www.rightdiagnosis.com/a/alexander_syndrome/intro.htm

http://radiopaedia.org/articles/alexander-disease

CADASIL

http://ulf.org/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infacts-and-leukoencephalopathy-cadasil

http://www.omim.org/entry/300100

http://emedicine.medscape.com/article/1423170-overview

http://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy

http://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm

http://www.ncbi.nlm.nih.gov/books/NBK1500/

http://radiopaedia.org/articles/cadasil

http://www.omim.org/entry/125310

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=136

Doença de Nasu – Hakola

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2770

http://www.neurology.org/content/56/11/1552

http://www.hindawi.com/journals/crior/2012/817189/

http://www.functionalneurology.com/materiale_cic/1_XIX_3/8_nasu-hakola/article.pdf

http://www.omim.org/entry/221770

Encefalopatia aguda disseminada

http://emedicine.medscape.com/article/1147044-overview

http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis

Hipomienização com atrofia dos gânglios basais e cerebelo

Ver Sindroma 4H

Krabbe

http://ghr.nlm.nih.gov/condition/krabbe-disease

http://www.mayoclinic.org/diseases-conditions/krabbe-disease/basics/definition/con-20029450

http://www.babysfirsttest.org/newborn-screening/conditions/krabbe

http://emedicine.medscape.com/article/951722-overview

http://ulf.org/krabbe-disease

http://www.healthline.com/health/krabbe-disease#Overview1

http://www.huntershope.org/site/PageServer?pagename=krabbe_krabbe

http://www.omim.org/entry/245200

http://www.patient.co.uk/doctor/Krabbe's-Disease.htm

Transplantes na  doença de Krabbe

http://teccir.blogspot.pt/2014/11/transplantes.html

Leucodistrofia de inicio no adulto

http://www.em-consulte.com/en/article/675549

http://brain.oxfordjournals.org/content/132/8/2161

http://www.omim.org/entry/169500

Leucodistrofia metacromatica

http://textoselinkssobrebioquinmicaesaude.blogspot.pt/2013/05/metabolismo-dos-lipidos.html

cap 10

http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy

http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy

http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm

http://emedicine.medscape.com/article/951840-overview

http://ulf.org/metachromatic-leukodystrophy-mld

http://www.omim.org/entry/250100

Leucoencefalopatia multifocal progressiva

http://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy

http://www.ninds.nih.gov/disorders/pml/pml.htm

http://emedicine.medscape.com/article/1167145-overview

http://www.nlm.nih.gov/medlineplus/ency/article/000674.htm

http://www.merckmanuals.com/home/brain-spinal-cord-and-nerve-disorders/brain-infections/progressive-multifocal-leukoencephalopathy

http://radiopaedia.org/articles/progressive-multifocal-leukoencephalopathy

http://pmlconsortium.org/healthcare-professionals/what-is-pml

Leucoencefalopatia na SIDA

http://emedicine.medscape.com/article/1167145-overview

http://en.wikipedia.org/wiki/Progressive_multifocal_leukoencephalopathy

http://www.aidsmeds.com/articles/PML_6826.shtml

http://aidsinfo.nih.gov/guidelines/html/4/adult-and-adolescent-oi-prevention-and-treatment-guidelines/346/pml-jcv

http://www.ajnr.org/content/20/10/1896.full

http://eradiology.bidmc.harvard.edu/LearningLab/central/Somersan.pdf

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2005000100027

http://www.turner-white.com/pdf/hp_may01_initial.pdf

Mielinolise central pontina

http://www.ninds.nih.gov/disorders/central_pontine/central_pontine_myelinolysis.htm

http://emedicine.medscape.com/article/1174329-overview

http://en.wikipedia.org/wiki/Central_pontine_myelinolysis

http://emedicine.medscape.com/article/1174329-overview

http://www.ninds.nih.gov/disorders/central_pontine/central_pontine_myelinolysis.htm

Neuropatia desmielinizante paraproteinemica

http://www.pdn-info.co.uk/

http://www.eaneurology.org/fileadmin/user_upload/guidline_papers/EFNS_guideline_2011_Paraproteinaemic_demyelinating_neuropathies.pdf

http://www.guideline.gov/content.aspx?id=34913

Osteoplasia membranosa com lrucodistrofia

Ver Doença de Nasu

Pelizaeus- Merzbacher

http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm

http://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease

http://en.wikipedia.org/wiki/Pelizaeus%E2%80%93Merzbacher_disease

http://emedicine.medscape.com/article/1153103-overview

http://www.patient.co.uk/doctor/Pelizaeus-Merzbacher-Disease.htm

http://www.omim.org/entry/312080

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=PT&Expert=702

http://ulf.org/pelizaeus-merzbacher

http://radiopaedia.org/articles/pelizaeus-merzbacher-disease

Poliradiculopatia inflamatória aguda desmielinizante

http://emedicine.medscape.com/article/1169959-overview

https://www.aanem.org/Education/Patient-Resources/Disorders/Acute-Inflammatory-Demyelinating-Polyradiculopathy.aspx

http://emedicine.medscape.com/article/1169959-overview

Sindroma 4H

http://ulf.org/4h-syndrome

http://www.vumc.com/branch/Children-White-Matter-Disorders/419739/419774/5798011/

http://www.omim.org/entry/607694

http://www.neurology.org/content/82/10_Supplement/P7.327

Sindroma 18q delection

http://ghr.nlm.nih.gov/condition/18q-deletion-syndrome

http://www.omim.org/entry/601808

http://en.wikipedia.org/wiki/Distal_18q-

http://ulf.org/18q-syndrome

http://www.rarechromo.org/information/Chromosome%2018/18q%20deletions%20from%2018q21%20and%20beyond%20FTNP.pdf

Sjogren – Larsen

http://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome

http://en.wikipedia.org/wiki/Sj%C3%B6gren%E2%80%93Larsson_syndrome

http://www.omim.org/entry/270200

http://www.rarediseasesnetwork.org/stair/SLS/

http://ulf.org/sjogren-larsson-syndrome

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=816

Van der Knaap

http://www.ijri.org/article.asp?issn=0971-3026;year=2006;volume=16;issue=4;spage=733;epage=734;aulast=Rajagopal

http://en.wikipedia.org/wiki/Leukoencephalopathy_with_vanishing_white_matter

http://radiopaedia.org/cases/van-der-knaap-disease

https://www.orpha.net/data/patho/GB/uk-Megalencephalicleukodystrophy.pdf

http://ulf.org/megalencephalic-leukoencephalopathy-with-subcortical-cysts-mlc-2

http://www.ajnr.org/content/25/6/1041.full

http://www.neurology-asia.org/articles/20102_193.pdf

Xantomatose cerebrotendinosa

http://rarediseases.info.nih.gov/gard/5622/disease/resources/1

http://www.ncbi.nlm.nih.gov/books/NBK1409/

http://www.rightdiagnosis.com/medical/cerebrotendinous_xanthomatosis.htm

http://emedicine.medscape.com/article/1418820-overview

http:/hr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis

http://www.omim.org/entry/213700

http://ulf.org/cerebrtendinous-xanthomatosis-ctx

http://www.nature.com/tp/journal/v3/n9/full/tp201376a.html

Zellweger

http://en.wikipedia.org/wiki/Zellweger_syndrome

http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm

http://ghr.nlm.nih.gov/condition/zellweger-spectrum

http://www.omim.org/entry/214100

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912

http://ulf.org/the-zellweger-spectrum

http://www.disabled-world.com/disability/types/zellweger-syndrome.php

Lipidoses. Mucolipidoses. Mucopolisacaridoses xxx

LIPIDOSES

Deficiencia em acetilneuramilnilgalactosilglicosilceramidoaciltransferase

Ver Gangliosidose GM3

Deficiencia em alfa-galactosidase

Ver DOENÇA DE FABRY

Deficiencia em arilsulfatase

Ver Leucodisreofia metacromatica

Deficiencia em betagalactosidase

Ver Gangliosidose GM1

Deficiencia em ceramidase

Ver doença de Farber

Deficiencia em esfingomielinase

Ver Doença de Nieman- Pick

Deficiencia em hexosaminidase A

Ver Doença de Tay- Sachs

Ver Gangliosidose GM2

Doença de Fabry

http://textoselinkssobrebioquinmicaesaude.blogspot.pt/2013/05/metabolismo-dos-lipidos.html

cap 10

http://en.wikipedia.org/wiki/Fabry_disease

http://emedicine.medscape.com/article/1952086-overview~

http://ghr.nlm.nih.gov/condition/fabry-disease

http://www.fabry.org/fsig.nsf/pages/fabry

http://www.medicinenet.com/fabrys_disease/article.htm

http://www.webmd.com/a-to-z-guides/fabry-disease

http://www.omim.org/entry/301500

http://www.patient.co.uk/doctor/anderson-fabry-disease

Doença de Farber

http://en.wikipedia.org/wiki/Farber_disease

http://www.ped-rheum.com/content/5/1/15

http://www.rightdiagnosis.com/f/farbers_disease/intro.htm

http://www.ninds.nih.gov/disorders/Farbers/farbers.htm

http://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis

http://www.omim.org/entry/228000

http://www.medindia.net/patients/patientinfo/farber-disease.htm

Doença de Gaucher

http://textoselinkssobrebioquinmicaesaude.blogspot.pt/2013/05/metabolismo-dos-lipidos.html

cap 10

http://en.wikipedia.org/wiki/Gaucher's_disease

http://ghr.nlm.nih.gov/condition/gaucher-disease

http://emedicine.medscape.com/article/944157-overview

http://www.mayoclinic.org/diseases-conditions/gauchers-disease/basics/definition/con-20031396

http://www.webmd.com/a-to-z-guides/gauchers-disease-symptoms-causes-treatments

https://www.genome.gov/25521505

http://www.patient.co.uk/doctor/Gaucher's-Disease.htm

http://www.medicinenet.com/gaucher_disease/article.htm

Doença de Nieman – Pick

http://en.wikipedia.org/wiki/Niemann%E2%80%93Pick_disease

http://ghr.nlm.nih.gov/condition/niemann-pick-disease

http://www.nlm.nih.gov/medlineplus/ency/article/001207.htm

http://www.nnpdf.org/npdisease_01.html

http://emedicine.medscape.com/article/951564-overview

http://www.omim.org/entry/257200

Doença de Sandoff

Ver Gangliosidose GM3

Doença de Tay- Sachs

http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

http://ghr.nlm.nih.gov/condition/tay-sachs-disease

http://kidshealth.org/parent/medical/genetic/tay_sachs.html

https://www.genome.gov/10001220

http://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/basics/definition/con-20036799

http://www.nhs.uk/conditions/tay-sachs-disease/pages/introduction.aspx

http://www.omim.org/entry/272800

Gangliosidose GM1

http://textoselinkssobrebioquinmicaesaude.blogspot.pt/2013/05/metabolismo-dos-lipidos.html

cap 10

http://ghr.nlm.nih.gov/condition/gm1-gangliosidosis

http://en.wikipedia.org/wiki/GM1_gangliosidoses

http://emedicine.medscape.com/article/951637-overview

http://www.omim.org/entry/230500

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=354

http://www.sciencedirect.com/science/article/pii/S0925443999000757

http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-87482012000100005

Gangliosidose GM2 ( Doença de Sandhoff)

http://textoselinkssobrebioquinmicaesaude.blogspot.pt/2013/05/metabolismo-dos-lipidos.html

cap 10

http://en.wikipedia.org/wiki/Sandhoff_disease

http://ghr.nlm.nih.gov/condition/sandhoff-disease

http://www.rightdiagnosis.com/s/sandhoff_disease/intro.htm

http://emedicine.medscape.com/article/951943-overview

http://www.omim.org/entry/272750

http://pediatrics.aappublications.org/content/128/5/e1233.full.pdf

http://www.nature.com/mt/journal/v20/n8/full/mt201244a.html

Gangliosidose GM 3

http://www.rightdiagnosis.com/medical/gangliosidosis_gm3.htm

MUCOLIPIDOSES  E MUCOSACARIDOSES

Mucolipidoses

TEXTOS

http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm

DEFICIENCIA EM SIALIDASE

Ver Mucolipidose tipo I

DISTROFIA PSEUDO HURLER

Ver Mucolipidoses tipo IIIA

I-CELL DISEASE

Ver MUCOLIPIDOSE TIPO II

MUCOLIPIDOSE TIPO I

http://www.omim.org/entry/250100

http://en.wikipedia.org/wiki/Sialidosis

http://www.rightdiagnosis.com/n/neuraminidase_deficiency_type_ii_juvenile_form/intro.htm

http://emedicine.medscape.com/article/948704-overview

http://www.ninds.nih.gov/disorders/mucolipidoses/detail_mucolipidoses.htm

http://ghr.nlm.nih.gov/condition/sialidosis

MUCOLIPIDOSE TIPO II

http://emedicine.medscape.com/article/945460-overview

http://www.ncbi.nlm.nih.gov/books/NBK1828/

http://emedicine.medscape.com/article/945460-overview

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=576

http://omim.org/entry/252500

http://www.ldnz.org.nz/lysosomal_diseases/list_of_lysosomal_disorders/mucolipidosis_type_iii

MUCOLIPIDOSE TIPO III

http://www.nzord.org.nz/introduction/other_new_zealanders_stories/one_familys_journey_with_mucolipidosis_type_3

MUCOLIPIDOSE TIPO IIIA

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=577

http://www.ncbi.nlm.nih.gov/books/NBK1875/

http://www.omim.org/entry/252600

MUCOLIPIDOSE III ALFA/ BETA

Ver Mucolipidose tipo IIIA

MUCOLIPIDOSE III GAMA

http://www.ismrd.org/glycoprotein_diseases/mucolipidosis_iii

http://ghr.nlm.nih.gov/condition/mucolipidosis-iii-gamma

MUCOLIPIDOSE TIPO IV

http://en.wikipedia.org/wiki/Mucolipidosis_type_IV

http://www.ncbi.nlm.nih.gov/books/NBK1214/

http://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv

http://www.pnas.org/content/95/3/1207.full

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=577

http://www.nzord.org.nz/introduction/other_new_zealanders_stories/one_familys_journey_with_mucolipidosis_type_3

http://www.mpssociety.org.uk/files/7813/6914/1934/Guide-MLIII-2013.pdf

http://www.ldnz.org.nz/lysosomal_diseases/list_of_lysosomal_disorders/mucolipidosis_type_iii

http://www.ml4.org/

http://www.omim.org/entry/252650

http://hmg.oxfordjournals.org/content/9/17/2471.full

https://www.jewishgenetics.org/mucolipidosis-iv-mliv

https://results.gentlelabs.com/mucolipidosis-type-iv

Mucopolisacaridoses

TEXTOS

http://en.wikipedia.org/wiki/Mucopolysaccharidosis

http://emedicine.medscape.com/article/1258678-overview

http://www.med.upenn.edu/orphandisease/docs/Mucopolysaccharidoses.pdf

DEFICIENCIA EM ALFA IDURONIDASE

Ver mucopolisacaridose tipo I

DEFICIENCIA EM BETA GLICURONIDASE

Ver Mucopolisacaridose tipo VII

DEFICIENCIA EM HEPARANA SULFATASE

Ver Polisacaridose tipo IIIb

DEFICIENCIA EM IDURONATO SULFATASE

Ver Mucopolisaridaridose tipo II

DOENÇA DE HUNTER

Ver Mucopolisacaridase tipo II

DOENÇA DE HURLER

Ver Mucopolisacaridose tipo I

DOENÇA DE MAROTEAUX- LAMY

Ver Mucopolicacaridose tipo VI

DOENÇA DE MORQUIO

Ver Mucopolisacaridose  tipo IVB

DOENÇA DE SANFILIPPO

Ver Polisacaridose tipo III

DOENÇA DE SCHELE

Ver Mucopolicaridose tipo V

DOENÇA DE SLY

Ver Polisacaridase tipo VII

MUCOPOLISACARIDOSE TIPO I

http://en.wikipedia.org/wiki/Hurler_syndrome

http://rarediseases.about.com/od/rarediseasesh/a/hurler.htm

http://omim.org/entry/269920

http://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease

http://www.nlm.nih.gov/medlineplus/ency/article/001204.htm

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=579

http://emedicine.medscape.com/article/1599374-overview

http://www.nature.com/gim/journal/v5/n4/full/gim200346a.html

MUCOPOLISACARIDOSE TIPO II

http://en.wikipedia.org/wiki/Hunter_syndrome

http://www.caducee.net/DossierSpecialises/genetique/maladie-hunter.asp

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii

http://www.omim.org/entry/309900

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=580

http://emedicine.medscape.com/article/944723-overview

http://www.babysfirsttest.org/newborn-screening/conditions/mucopolysaccharidosis-type-ii

http://www.ojrd.com/content/6/1/72

http://jasonandjustinsjourneyx2.com/what-is-mps-2/

MUCOPOLISACARIDOSE TIPO III

http://en.wikipedia.org/wiki/Sanfilippo_syndrome

http://emedicine.medscape.com/article/948540-overview

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=581.0

http://www.ojrd.com/content/6/1/43

MUCOPOLISACARIDOSE TIPO IIIA

http://www.omim.org/entry/252900

http://glycob.oxfordjournals.org/content/9/12/1389.full

http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/61820

http://www.sciencedirect.com/science/article/pii/S2214426914000615

MUCOPOLISACARIDOSE TIPO IIIB

http://www.omim.org/entry/252920

http://en.wikipedia.org/wiki/Sanfilippo_syndrome

http://rarediseases.info.nih.gov/gard/7072/mucopolysaccharidosis-type-iiib/resources/1

http://www.bonchien.com/MPSIIIB.html

https://clinicaltrials.gov/ct2/show/NCT01509768

http://jmg.bmj.com/content/36/1/28.full

http://www.cags.org.ae/pdf/252920.pdf

MUCOPOLISACARIDOSE TIPO IIIC

http://www.omim.org/entry/252930

http://rarediseases.info.nih.gov/gard/7073/mucopolysaccharidosis-type-iiic/resources/1

http://www.montreal-diabetes-research-center.org/en/pshezhetsky/gene1.pdf

MUCOPOLISACARIDOSE TIPO IIID

http://www.omim.org/entry/252940

http://www.ncbi.nlm.nih.gov/pubmed/20232353

http://rarediseases.info.nih.gov/gard/7074/mucopolysaccharidosis-type-iiid/resources/1

MUCOPOLISACARIDOSE TIPO IVA

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv

http://emedicine.medscape.com/article/947254-overview

http://www.omim.org/entry/253000

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=582.0

http://www.arianascure.com/edcd.pdf

MUCOPOLISACARIDOSE TIPO IVB

http://emedicine.medscape.com/article/951637-overview

http://www.omim.org/entry/253010

http://disorders.eyes.arizona.edu/category/alternate-names/mucopolysaccharidosis-type-ivb

MUCOPOLISACARIDOSE TIPO V

http://www.omim.org/entry/607016

MUCOPOLISACARIDOSE TIPO VI

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi

http://emedicine.medscape.com/article/946474-overview

http://www.omim.org/entry/253200

http://bmt.umn.edu/maroteaux-lamy-syndrome-mucopolysaccharidosis-type-vi

http://www.ojrd.com/content/5/1/5

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=583

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572008000200007

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-39842002000500013

MUCOPOLISACARIDOSE TIPO VII

http://en.wikipedia.org/wiki/Sly_syndrome

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii

http://www.omim.org/entry/253220

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=584

http://emedicine.medscape.com/article/944298-overview

http://www.nature.com/jp/journal/v23/n1/full/7210844a.html

http://www.nature.com/pr/journal/v47/n6/full/pr2000128a.html

MUCOPOLISARIDOSE TIPO IX

http://www.omim.org/entry/601492

http://ghr.nlm.nih.gov/gene/HYAL1

https://www.preventiongenetics.com/clinical-dna-testing/test/mucopolysaccharidosis-type-ix-via-the-hyal1-gene/2664/

SIALIDOSE

Ver Mucolipidose tipo I