Literature DB >> 4815259

Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.

I K Brandt, Y E Hsia, D H Clement, S A Provence.   

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Year:  1974        PMID： 4815259

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  17 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.  Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.

Authors:  T Ohura; S Miyabayashi; K Narisawa; K Tada
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

Review 3.  Acute management of propionic acidemia.

Authors:  Kimberly A Chapman; Andrea Gropman; Erin MacLeod; Kathy Stagni; Marshall L Summar; Keiko Ueda; Nicholas Ah Mew; Jill Franks; Eddie Island; Dietrich Matern; Loren Pena; Brittany Smith; V Reid Sutton; Tiina Urv; Charles Venditti; Anupam Chakrapani
Journal:  Mol Genet Metab       Date:  2011-09-24       Impact factor: 4.797

4.  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

5.  Normal growth and development with unrestricted protein intake after severe infantile propionic acidaemia.

Authors:  A S Luder; S Yannicelli; C L Green
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

6.  Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.

Authors:  A M Lamhonwah; T J Barankiewicz; H F Willard; D J Mahuran; F Quan; R A Gravel
Journal:  Proc Natl Acad Sci U S A       Date:  1986-07       Impact factor: 11.205

Review 7.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

8.  Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.

Authors:  J A Del Valle; B Merinero; M J Garciá; M Ugarte; F Omeñaca; G Neustadt
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

9.  Treatment of a neonate with propionic acidaemia and severe hyperammonaemia by peritoneal dialysis.

Authors:  M F Robert; D J Schultz; B Wolf; W D Cochran; A L Schwartz
Journal:  Arch Dis Child       Date:  1979-12       Impact factor: 3.791

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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