Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency-Reference-Cited by-同舟云学术

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

Published:2012-11 Issue:3 Volume:107 Page:611-613
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Honzík Tomáš,Magner Martin,Krijt Jakub,Sokolová Jitka,Vugrek Oliver,Belužić Robert,Barić Ivo,Hansíkova Hana,Elleder Milan,Veselá Kateřina,Bauerová Lenka,Ondrušková Nina,Ješina Pavel,Zeman Jiří,Kožich Viktor

Funder

IGA NT12166-5/2011, 108-1081870-1885

IPA-project “Creation of Research Infrastructure for Translational Medicine and Applied Genomics”

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference9 articles.

1. The enzymatic synthesis of S-adenosyl-L-homocysteine from adenosine and homocysteine;De La Haba;J. Biol. Chem.,1959

2. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism;Barić;Proc. Nat. Acad. Sci. U.S.A.,2004

3. S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy;Barić;J. Inherit. Metab. Dis.,2005

4. S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man;Buist;J. Inherit. Metab. Dis.,2006

5. The fourth S-adenosylhomocysteine hydrolase deficient patient: further evidence of congenital myopathy;Cuk;Clin. Chem. Lab. Med.,2007

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