Erros metabolicos. Doenças raras. Doenças geneticas
terça-feira, 28 de abril de 2015
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
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