Literature DB >> 8803790

Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts.

W C Ip1, J W Hammond, B Wilcken.   

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Year:  1996        PMID： 8803790     DOI： 10.1007/bf01799277

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


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  3 in total

1.  A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.

Authors:  N J Manning; S E Olpin; R J Pollitt; J Webley
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.

Authors:  J P Loehr; S I Goodman; F E Frerman
Journal:  Pediatr Res       Date:  1990-03       Impact factor: 3.756

3.  Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders.

Authors:  W J Rhead; J A Wolff; M Lipson; P Falace; N Desai; K Fritchman; A Moon; L Sweetman
Journal:  Pediatr Res       Date:  1987-04       Impact factor: 3.756
  3 in total
  3 in total

1.  Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.

Authors:  Xin Fan; Bobo Xie; Jun Zou; Jingsi Luo; Zailong Qin; Alissa M D'Gama; Jiahai Shi; Shang Yi; Qi Yang; Jin Wang; Shiyu Luo; Shaoke Chen; Pankaj B Agrawal; Qifei Li; Yiping Shen
Journal:  Mol Genet Metab Rep       Date:  2018-06-11

2.  Role of RNA in Molecular Diagnosis of MADD Patients.

Authors:  Célia Nogueira; Lisbeth Silva; Ana Marcão; Carmen Sousa; Helena Fonseca; Hugo Rocha; Teresa Campos; Elisa Leão Teles; Esmeralda Rodrigues; Patrícia Janeiro; Ana Gaspar; Laura Vilarinho
Journal:  Biomedicines       Date:  2021-05-04

Review 3.  Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.

Authors:  Meijuan Ding; Ruihua Liu; Li Qiubo; Yanke Zhang; Qingxia Kong
Journal:  Medicine (Baltimore)       Date:  2020-09-11       Impact factor: 1.817
  3 in total

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