Literature DB >> 1000856

3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-coenzyme A lyase levels in leucocytes.

S J Wysocki, R Hähnel.   

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Year:  1976        PMID： 1000856     DOI： 10.1016/0009-8981(76)90186-8

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


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  12 in total

1.  Sudden death in an infant with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors:  A Ribes; P Briones; M A Vilaseca; R Baraibar; J M Gairi
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: biochemical studies and family investigation of four generations.

Authors:  V Barash; H Mandel; S Sella; R Geiger
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  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

4.  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

5.  Cardiolipin-induced activation of pyruvate dehydrogenase links mitochondrial lipid biosynthesis to TCA cycle function.

Authors:  Yiran Li; Wenjia Lou; Vaishnavi Raja; Simone Denis; Wenxi Yu; Michael W Schmidtke; Christian A Reynolds; Michael Schlame; Riekelt H Houtkooper; Miriam L Greenberg
Journal:  J Biol Chem       Date:  2019-06-11       Impact factor: 5.157

Review 6.  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

7.  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

8.  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

9.  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

10.  Molecular basis of 3-hydroxy-3-methylglutaric aciduria.

Authors:  J Pie; N Casals; B Puisac; F G Hegardt
Journal:  J Physiol Biochem       Date:  2003-12       Impact factor: 4.158
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