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Hepatology. 2021 Sep;74(3):1702-1704. doi: 10.1002/hep.31778. Epub 2021 May 22.

Mevalonic Aciduria Associated With Intrahepatic Bile Duct Paucity.

Hepatology (Baltimore, Md.)

Melissa Chiu, Justin Garabon, Lina Chen, Natalya Karp, Akshay Kapoor, Jessica P Woolfson

Affiliations

  1. Department of Pediatrics, Children's Hospital at London Health Sciences Centre, London, ON, Canada.
  2. Schulich School of Medicine and Dentistry, The University of Western Ontario, London, ON, Canada.
  3. Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, ON, Canada.
  4. Division of Genetics and Metabolics, Children's Hospital at London Health Sciences Centre, London, ON, Canada.
  5. Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital at London Health Sciences Centre, London, ON, Canada.

PMID: 33638873 DOI: 10.1002/hep.31778

[No abstract available.]

References

  1. Zhang S. Natural history of mevalonate kinase deficiency: a literature review. Pediatr Rheumatol Online J 2016;14:30. - PubMed
  2. Steiner LA, Ehrenkranz RA, Peterec SM, Steiner RD, Reyes-Múgica M, Gallagher PG. Perinatal onset mevalonate kinase deficiency. Pediatr Dev Pathol 2011;14:301-306. - PubMed
  3. Hinson DD, Rogers ZR, Hoffmann GF, Schachtele M, Fingerhut R, Kohlschutter A, et al. Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. Am J Med Genet 1998;78:408-412. - PubMed
  4. Spinner N, Gilbert M, Loomes K, Krantz I. Alagille syndrome. In: GeneReviews®. Adam MP, Ardinger HH, Pagon RA, Wallace SE, eds. Seattle, WA: University of Washington, Seattle; 1993-2020. - PubMed
  5. Szymanski AM, Dávila Saldaña B, Ferreira CR, Loechelt B, Jung L. Mevalonic aciduria: does stem cell transplant fully cure disease? Pediatr Transplant 2020;24:e13604. - PubMed

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