The porphyrias

Eric W. Gou; John D. Phillips; Karl E. Anderson

doi:10.3233/978-1-61499-718-4-577

The porphyrias

Eric W. Gou, John D. Phillips, Karl E. Anderson

Internal Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Scopus citations

Abstract

Inherited disorders of intrahepatic cholestasis include entities such as Alagille syndrome, due to mutations in the JAG1 or NOTCH2 genes, progressive familial cholestatic disorders related to mutations in the genes that code for hepatocyte canalicular transporters, bile acid synthetic disorders, and rarer entities such as North American Indian childhood cirrhosis, familial hypercholanemia and Gracile syndrome. Principal distinguishing characteristics of the major inherited disorders of intrahepatic cholestasis are shown in Table 1. Disorders of bilirubin metabolism include Crigler-Najjar, Gilbert, Dubin-Johnson and Rotor syndromes.

Original language	English (US)
Title of host publication	Metabolic Diseases
Subtitle of host publication	Foundations of Clinical Management, Genetics, and Pathology
Publisher	IOS Press
Pages	543-576
Number of pages	34
ISBN (Electronic)	9781614997184
ISBN (Print)	9781614997177
DOIs	https://doi.org/10.3233/978-1-61499-718-4-577
State	Published - Jan 6 2017

Keywords

Alagille syndrome
Bile acid synthetic disorders
Disorders of bilirubin metabolism
Inherited intrahepatic cholestatic disorders
Miscellaneous causes of low-GGT and high-GGT intrahepatic cholestasis
Progressive familial intrahepatic cholestasis

ASJC Scopus subject areas

General Medicine

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abstract = "Inherited disorders of intrahepatic cholestasis include entities such as Alagille syndrome, due to mutations in the JAG1 or NOTCH2 genes, progressive familial cholestatic disorders related to mutations in the genes that code for hepatocyte canalicular transporters, bile acid synthetic disorders, and rarer entities such as North American Indian childhood cirrhosis, familial hypercholanemia and Gracile syndrome. Principal distinguishing characteristics of the major inherited disorders of intrahepatic cholestasis are shown in Table 1. Disorders of bilirubin metabolism include Crigler-Najjar, Gilbert, Dubin-Johnson and Rotor syndromes.",

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The porphyrias

Abstract

Keywords

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