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Results 1 - 10 of 1,809 for H syndrome
  1. ... hyperammonemia-homocitrullinemia syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Triple H syndrome Genetic Testing Registry: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Hyperornithinemia- ...
  2. ... of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), ... additional signs and symptoms. A characteristic feature of H syndrome is abnormal patches of skin (lesions), typically on ...
  3. ... syndrome) MPS III (Sanfilippo syndrome) MPS IV (Morquio syndrome)
  4. ... Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Vici syndrome: a review. Orphanet J Rare Dis. 2016 Feb ... G, Chen Y, Feng D, Hu J, Zhang H. The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines ...
  5. ... into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least ... deficiency MPS I MPS I H MPS I H-S MPS I S Mucopolysaccharidosis I Scheie syndrome ... Genetic Testing Registry: Mucopolysaccharidosis type 1 Mucopolysaccharidosis type ...
  6. ... C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human ...
  7. ... C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human ...
  8. ... Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. Arts syndrome is caused by loss-of-function mutations in ... nih.gov/books/NBK2591/ Citation on PubMed Kremer H, Hamel BC, van ... for a syndrome with X-linked mental retardation, ataxia, weakness, hearing ...
  9. ... Central Ferreira C, Pierre G, Thompson R, Vernon H. Barth Syndrome. 2014 Oct 9 [updated 2020 Jul 9]. In: ... Maisenbacher MK, Versluys B, Newbury-Ecob RA, Ozsahin H, Damin MK, Bowen ... syndrome: characteristics, risks, and management. Curr Opin Hematol. 2019 ...
  10. ... Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. Arts syndrome is caused by loss-of-function mutations in ...
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