Literature DB >> 1779635

Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child.

M O Rolland1, P Divry, M T Zabot, P Guibaud, S Gomez, A Lachaux, I Loras.   

Abstract

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Year:  1991        PMID： 1779635     DOI： 10.1007/bf01799962

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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1.  Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period.

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2.  Excretion of N-isovalerylglutamic acid in isovaleric acidemia.

Authors:  W Lehnert
Journal:  Clin Chim Acta       Date:  1981-10-26       Impact factor: 3.786
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1.  Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.

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Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

2.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.

Authors:  W Lehnert; H Niederhoff; T Suormala; E R Baumgartner
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

3.  3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  J L van Hove; S L Rutledge; M A Nada; S G Kahler; D S Millington
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome.

Authors:  C Bannwart; B Wermuth; R Baumgartner; T Suormala; U N Weismann
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

5.  Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.

Authors:  Zhuo Shao; Ikuo Masuho; Anupreet Tumber; Jason T Maynes; Erika Tavares; Asim Ali; Stacy Hewson; Andreas Schulze; Peter Kannu; Kirill A Martemyanov; Ajoy Vincent
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  5 in total

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