Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity

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Published inHepatology (Baltimore, Md.) Vol. 74; no. 3; pp. 1702 - 1704
Main Authors Chiu, Melissa, Garabon, Justin, Chen, Lina, Karp, Natalya, Kapoor, Akshay, Woolfson, Jessica P.
Format Journal Article
LanguageEnglish
Published United States Wiley Subscription Services, Inc 01.09.2021
Subjects
Aciduria
Bile ducts
Bile Ducts, Intrahepatic - pathology
Bile Ducts, Intrahepatic - physiopathology
Cholestasis - physiopathology
Hematopoietic Stem Cell Transplantation
Hepatology
Humans
Infant, Newborn
Jaundice - physiopathology
Liver - pathology
Liver - physiopathology
Male
Mevalonate Kinase Deficiency - diagnosis
Mevalonate Kinase Deficiency - pathology
Mevalonate Kinase Deficiency - physiopathology
Mevalonate Kinase Deficiency - therapy
Phosphotransferases (Alcohol Group Acceptor) - genetics
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Author Kapoor, Akshay
Chen, Lina
Garabon, Justin
Karp, Natalya
Woolfson, Jessica P.
Chiu, Melissa
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  fullname: Garabon, Justin
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  surname: Woolfson
  fullname: Woolfson, Jessica P.
  email: Jessica.woolfson@lhsc.on.ca
  organization: Children’s Hospital at London Health Sciences Centre
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10.2350/11-02-0985-OA.1
10.1186/s12969-016-0091-7
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References 2020
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2016; 14
1998; 78
2011; 14
(hep31778-bib-0003-20241017) 1998; 78
(hep31778-bib-0005-20241017) 2020; 24
(hep31778-bib-0002-20241017) 2011; 14
(hep31778-bib-0001-20241017) 2016; 14
References_xml – volume: 14
  start-page: 30
  year: 2016
  article-title: Natural history of mevalonate kinase deficiency: a literature review
  publication-title: Pediatr Rheumatol Online J
– volume: 14
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  article-title: Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency
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  article-title: Mevalonic aciduria: does stem cell transplant fully cure disease?
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  article-title: Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency
  publication-title: Am J Med Genet
  doi: 10.1002/(SICI)1096-8628(19980806)78:5<408::AID-AJMG3>3.0.CO;2-H
– volume: 14
  start-page: 301
  year: 2011
  ident: hep31778-bib-0002-20241017
  article-title: Perinatal onset mevalonate kinase deficiency
  publication-title: Pediatr Dev Pathol
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– volume: 14
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  ident: hep31778-bib-0001-20241017
  article-title: Natural history of mevalonate kinase deficiency: a literature review
  publication-title: Pediatr Rheumatol Online J
  doi: 10.1186/s12969-016-0091-7
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SubjectTerms Aciduria
Bile ducts
Bile Ducts, Intrahepatic - pathology
Bile Ducts, Intrahepatic - physiopathology
Cholestasis - physiopathology
Hematopoietic Stem Cell Transplantation
Hepatology
Humans
Infant, Newborn
Jaundice - physiopathology
Liver - pathology
Liver - physiopathology
Male
Mevalonate Kinase Deficiency - diagnosis
Mevalonate Kinase Deficiency - pathology
Mevalonate Kinase Deficiency - physiopathology
Mevalonate Kinase Deficiency - therapy
Phosphotransferases (Alcohol Group Acceptor) - genetics
Title Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fhep.31778
https://www.ncbi.nlm.nih.gov/pubmed/33638873
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