Literature DB >> 4811988

Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies.

G Gaull, J A Sturman, F Schaffner.   

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Year:  1974        PMID： 4811988     DOI： 10.1016/s0022-3476(74)80721-3

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  18 in total

1.  [The use of different cysteine derivatives in longterm parenteral nutrition].

Authors:  S Böhler; M Neuhäuser-Berthold
Journal:  Z Ernahrungswiss       Date:  1989-03

2.  Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiency.

Authors:  R Sartorio; R Carrozzo; L Corbo; G Andria
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

3.  Pyridoxal phosphate-induced liver injury in a patient with homocystinuria.

Authors:  I Yoshida; Y Sakaguchi; M Nakano; F Yamashita; T Hitoshi
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.

Authors:  Tomas Majtan; Helena Hůlková; Insun Park; Jakub Krijt; Viktor Kožich; Erez M Bublil; Jan P Kraus
Journal:  FASEB J       Date:  2017-08-16       Impact factor: 5.191

5.  Pyridoxine-responsive homocystinuria with ruptured sinus of Valsalva in a Chinese boy.

Authors:  J W Hou; T R Wang
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

6.  Homocysteine-induced endoplasmic reticulum stress causes dysregulation of the cholesterol and triglyceride biosynthetic pathways.

Authors:  G H Werstuck; S R Lentz; S Dayal; G S Hossain; S K Sood; Y Y Shi; J Zhou; N Maeda; S K Krisans; M R Malinow; R C Austin
Journal:  J Clin Invest       Date:  2001-05       Impact factor: 14.808

7.  A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

Authors:  V E Shih; J M Fringer; R Mandell; J P Kraus; G T Berry; R A Heidenreich; M S Korson; H L Levy; V Ramesh
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

8.  Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.

Authors:  G H Boers; B Fowler; A G Smals; F J Trijbels; A I Leermakers; W J Kleijer; P W Kloppenborg
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Homocysteine supplementation attenuates the unfolded protein response in a murine nutritional model of steatohepatitis.

Authors:  Anne S Henkel; Marc S Elias; Richard M Green
Journal:  J Biol Chem       Date:  2009-09-17       Impact factor: 5.157

10.  Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts.

Authors:  T S Su; H G Bock; A L Beaudet; W E O'Brien
Journal:  J Clin Invest       Date:  1982-12       Impact factor: 14.808
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