Literature DB >> 6820455

Diagnosis of organic acidemias by gas chromatography--mass spectrometry.

S I Goodman, S P Markey.   

Abstract

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Year:  1981        PMID： 6820455

Source DB:  PubMed          Journal:  Lab Res Methods Biol Med        ISSN： 0160-8584


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  27 in total

1.  Prenatal diagnosis of Canavan disease.

Authors:  R Matalon; K Michals; P Gashkoff; R Kaul
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Biochemical features of maize tissues with different capacities to regenerate plants.

Authors:  V Lozovaya; A Ulanov; A Lygin; D Duncan; J Widholm
Journal:  Planta       Date:  2006-06-21       Impact factor: 4.116

3.  Mitochondrial Factors and VACTERL Association-Related Congenital Malformations.

Authors:  S Siebel; B D Solomon
Journal:  Mol Syndromol       Date:  2013-02

Review 4.  Inborn errors of metabolism in the 21st century: past to present.

Authors:  Georgianne L Arnold
Journal:  Ann Transl Med       Date:  2018-12

5.  Biochemical observations on a case of hepatic fructose-1,6-diphosphatase deficiency.

Authors:  F A Hommes; R Campbell; C Steinhart; R A Roesel; F Bowyer
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

6.  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

7.  A clinical biochemist's view of the investigation of suspected inherited metabolic disease.

Authors:  W Blom; J G Huijmans; G B van den Berg
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

8.  Glutaric aciduria type 1: biochemical investigations and postmortem findings.

Authors:  M J Bennett; N Marlow; R J Pollitt; J K Wales
Journal:  Eur J Pediatr       Date:  1986-10       Impact factor: 3.183

9.  SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.

Authors:  R Matalon; R Kaul; J Casanova; K Michals; A Johnson; I Rapin; P Gashkoff; M Deanching
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

10.  Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin.

Authors:  M L Batshaw; G H Thomas; S R Cohen; R Matalon; M J Mahoney
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982
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