Literature DB >> 4180220

Defective propionate carboxylation in ketotic hyperglycinaemia.

Y E Hsia, K J Scully, L E Rosenberg.   

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Year:  1969        PMID: 4180220     DOI: 10.1016/s0140-6736(69)91757-7

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


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  20 in total

1.  Propionyl-CoA-carboxylase determination: study of enzyme parameters in cultured skin fibroblasts from enzyme-deficient and normal subjects.

Authors:  P Divry; M O Rolland; N Dingeon; M Mathieu; J Cotte; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Isovaleric, methylmalonic, and propionic acid decrease anesthetic EC50 in tadpoles, modulate glycine receptor function, and interact with the lipid 1,2-dipalmitoyl-Sn-glycero-3-phosphocholine.

Authors:  Yun Weng; Tienyi Theresa Hsu; Jing Zhao; Stefanie Nishimura; Gerald G Fuller; James M Sonner
Journal:  Anesth Analg       Date:  2009-05       Impact factor: 5.108

3.  Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

Authors:  R A Gravel; K F Lam; K J Scully; Y Hsia
Journal:  Am J Hum Genet       Date:  1977-07       Impact factor: 11.025

4.  Clinical outcome and long-term management of 17 patients with propionic acidaemia.

Authors:  S B van der Meer; F Poggi; M Spada; J P Bonnefont; H Ogier; P Hubert; E Depondt; D Rapoport; D Rabier; C Charpentier; P Parvy; J Bardet; P Kamoun; J M Saudubray
Journal:  Eur J Pediatr       Date:  1996-03       Impact factor: 3.183

Review 5.  Food intolerance in humans.

Authors:  R H Herman; L Hagler
Journal:  West J Med       Date:  1979-02

6.  Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".

Authors:  Y E Hsia; K J Scully; L E Rosenberg
Journal:  J Clin Invest       Date:  1971-01       Impact factor: 14.808

Review 7.  [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].

Authors:  D Leupold
Journal:  Klin Wochenschr       Date:  1977-01-15

8.  3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia.

Authors:  T Ando; K Rasmussen; W L Nyhan; D Hull
Journal:  Proc Natl Acad Sci U S A       Date:  1972-10       Impact factor: 11.205

9.  Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity.

Authors:  F Kalousek; M D Orsulak; L R Rosenberg
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

10.  Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.

Authors:  A M Lamhonwah; R A Gravel
Journal:  Am J Hum Genet       Date:  1987-12       Impact factor: 11.025

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