Homocystinuria due to cystathionine β-synthase deficiency: Novel biochemical findings and treatment efficacy-Reference-Cited by-同舟云学术

Homocystinuria due to cystathionine β-synthase deficiency: Novel biochemical findings and treatment efficacy

Published:2003-12 Issue:8 Volume:26 Page:761-773
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Orendáč M.¹²,Zeman J.²,Stabler S. P.³,Allen R. H.³,Kraus J. P.⁴,Bodamer O.⁵,Stöckler-Ipsiroglu S.⁵,Kvasnička J.⁶,Kožich V.¹⁷

Affiliation:

1. Institute of Inherited Metabolic Diseases, Department of Pediatrics; Charles University-First Faculty of Medicine; Prague Czech Republic

2. Center for Integrated Genomics, Department of Pediatrics; Charles University-First Faculty of Medicine; Prague Czech Republic

3. ; Department of Medicine; University of Colorado Health Sciences Center; Denver Colorado USA

4. ; Department of Pediatrics; University of Colorado Health Sciences Center; Denver Colorado USA

5. ; Department of Pediatrics; University Hospital of Vienna; Vienna Austria

6. Division of Clinical Hematology, First Internal Medicine Department; Charles University-First Faculty of Medicine; Prague Czech Republic

7. ; Institute of Inherited Metabolic Diseases; Charles University, First Faculty of Medicine; Ke Karlovu 2 Prague 2 128 08 Czech Republic

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000009963.88420.c2/fullpdf

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3. Congenital microcephaly and seizures due to 3-phosphoglyceraldehyde dehydrogenase deficiency: outcome of treatment with amino acid;De Koning;J Inherit Metab Dis,2002

4. Homocysteinemia: depressed plasma serine levels;Dudman;Metabolism,1987

5. Effect of 2'-deoxycoformycin infusion on S-adenosyl-homocysteine hydrolase and the amount of S-adenosylhomocysteine and related compounds in tissues of mice;Helland;Cancer Res,1983

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