Literature DB >> 1000872

The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria.

K F Faull, P D Bolton, B Halpern, J Hammond, D M Danks.   

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Year:  1976        PMID： 1000872     DOI： 10.1016/0009-8981(76)90160-1

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


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  22 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.  A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors:  J Pié; N Casals; C H Casale; C Buesa; C Mascaró; A Barceló; M O Rolland; T Zabot; D Haro; F Eyskens; P Divry; F G Hegardt
Journal:  Biochem J       Date:  1997-04-15       Impact factor: 3.857

3.  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

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.  3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency.

Authors:  M Günel; T Coşkun; A Tokatli; I Ozalp
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  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 7.  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

8.  3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.

Authors:  J Greter; B Hagberg; G Steen; U Söderhjelm
Journal:  Eur J Pediatr       Date:  1978-12-01       Impact factor: 3.183

9.  Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria.

Authors:  Mariana Dos Santos Mello; Graziela Schmitt Ribas; Carlos Alberto Yasin Wayhs; Tatiane Hammerschmidt; Gilian Batista Balbueno Guerreiro; Jéssica Lamberty Favenzani; Ângela Sitta; Daniella de Moura Coelho; Moacir Wajner; Carmen Regla Vargas
Journal:  Mol Cell Biochem       Date:  2015-01-04       Impact factor: 3.396

10.  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
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