Leucodistrofias

LEUCODISTROFIAS

Origem da palavra
A leucodisttofia vem do somatoriovde tres vocabulos. LEUCbranco, DID - anormal e FOS-  crescimento. Trata-se portanto do desenvolmento anormal da mielina

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

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

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

Causa
Reduçao ou ausencis de microsomas

Hereditariedade
Autosomica 

Prevalencis
1:50.000
Sintomas´

• Migraçao nruronal diminuida
• Msu posicionamentoneuronal
• Hipomielinizaçao
• Visao e audiças diminuida´
• Anomalias ceaneofaciais
• Hepatomegalia
• Quistos renais
• Os recemnascidos podem apresentar hipotonia, dificuldade em comer, convulsoes e apneia

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

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

Lipidoses

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

Causas

Actividade deficiente da a-galactosidase

Acumulação de glicoesfingolipidos, nomeadamente globotrisialoceramidas nascélulas

Esta acumulação de glicoesfingolipidos provoca tumefacção e proliferação das células endoteliais com alteração dofluxo sanguíneo no cérebro e vasos periféricos

É ums doença lisosomica

.

Hereditariedade

Ligada ao X

Prevalencia´

80 casos descrito

Sintomas

• Acroparesresia(dot nas extremidades) devida a lesoes vasculares
• Dores intestinais devidas à acumulaçao de pequenas  paticulssm metsbolicas na prquena circulaçao
• Os rine são seriamente atingidoeo
• Apresença de proteinas  na urina é,por vezes um sinal inicial de diagnostico
• Angioquerariose
• Anidrose
• ´Fenomeno de Raynaud´
• sornra verrticilada
• Turvaçao da cornea
• Fadiga
• Neuropstis
• Risco de AVC

Tratamento

Peopos-se vum ERT( enzime replscement v theraoy.o 

FABRAZME , produto co´rividades semelhantes ao que falta  no organismo.A acção não é completa mas  mrlhota muito sintomas e actua sobre a ptogressao da

• 
  
• f

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

cap 10

http://en.wikipediaa.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