Literature DB >> 963901

3-Hydroxy-3-methylglutaric aciduria: deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.

S J Wysocki, R Hähnel.   

Abstract

A marked deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase activity is present in cultured skin fibroblasts from a baby with 3-hydroxy-3-methylglutaric aciduria.

Mesh：

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Year:  1976        PMID： 963901     DOI： 10.1016/0009-8981(76)90552-0

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  16 in total

1.  3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

Authors:  S J Wysocki; R Hähnel
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.

Authors:  M Dasouki; D Buchanan; N Mercer; K M Gibson; J Thoene
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.

Authors:  R A Chalmers; B M Tracey; J Mistry; T E Stacey; I R McFadyen
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 4.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.

Authors:  K M Gibson; J Breuer; W L Nyhan
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183

5.  Screening for organic acidurias and amino acidopathies in newborns and children.

Authors:  R A Chalmers; P Purkiss; R W Watts; A M Lawson
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

Review 6.  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

7.  3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.

Authors:  W Lehnert; J Scharf; U Wendel
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183

8.  Prenatal diagnosis of the organic acidurias.

Authors:  L Sweetman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

9.  Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary management.

Authors:  T E Stacey; C de Sousa; B M Tracey; A Whitelaw; J Mistry; P Timbrell; R A Chalmers
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

10.  3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis.

Authors:  D Leupold; M Bojasch; C Jakobs
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183
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