Literature DB >> 480035

Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl.

B Wolf, E P Paulsen, Y E Hsia.   

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Year:  1979        PMID： 480035     DOI： 10.1016/s0022-3476(79)80768-4

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


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  10 in total

1.  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

2.  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

Review 3.  The biotin-dependent carboxylase deficiencies.

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

4.  Biochemical characterization of propionyl CoA carboxylase deficiency: heterogeneity within a single genetic complementation group.

Authors:  C McKeon; R Z Eanes; B Wolf
Journal:  Biochem Genet       Date:  1982-02       Impact factor: 1.890

Review 5.  An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Authors:  S I Goodman
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

6.  Propionic acidemia: neonatal versus selective metabolic screening.

Authors:  S C Grünert; S Müllerleile; L de Silva; M Barth; M Walter; K Walter; T Meissner; M Lindner; R Ensenauer; R Santer; O A Bodamer; M R Baumgartner; M Brunner-Krainz; D Karall; C Haase; I Knerr; T Marquardt; J B Hennermann; R Steinfeld; S Beblo; H G Koch; V Konstantopoulou; S Scholl-Bürgi; A van Teeffelen-Heithoff; T Suormala; W Sperl; J P Kraus; A Superti-Furga; K O Schwab; J O Sass
Journal:  J Inherit Metab Dis       Date:  2011-12-02       Impact factor: 4.982

7.  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

8.  Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts.

Authors:  J Stankovics; F D Ledley
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

9.  Mutations participating in interallelic complementation in propionic acidemia.

Authors:  R A Gravel; B R Akerman; A M Lamhonwah; M Loyer; A Léon-del-Rio; I Italiano
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

10.  Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.

Authors:  Sarah C Grünert; Stephanie Müllerleile; Linda De Silva; Michael Barth; Melanie Walter; Kerstin Walter; Thomas Meissner; Martin Lindner; Regina Ensenauer; René Santer; Olaf A Bodamer; Matthias R Baumgartner; Michaela Brunner-Krainz; Daniela Karall; Claudia Haase; Ina Knerr; Thorsten Marquardt; Julia B Hennermann; Robert Steinfeld; Skadi Beblo; Hans-Georg Koch; Vassiliki Konstantopoulou; Sabine Scholl-Bürgi; Agnes van Teeffelen-Heithoff; Terttu Suormala; Wolfgang Sperl; Jan P Kraus; Andrea Superti-Furga; Karl Otfried Schwab; Jörn Oliver Sass
Journal:  Orphanet J Rare Dis       Date:  2013-01-10       Impact factor: 4.123
  10 in total

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