A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature

World Journal of Clinical Cases ◽

10.12998/wjcc.v6.i14.786 ◽

2018 ◽

Vol 6 (14) ◽

pp. 786-790

Author(s):

Neslihan Yildirim Saral ◽

Fehime Benli Aksungar ◽

Cigdem Aktuglu-Zeybek ◽

Julide Coskun ◽

Ozlem Demirelce ◽

...

Keyword(s):

Electron Transfer ◽

Case Report ◽

Gene Mutations ◽

Type Ii ◽

Review Of Literature ◽

Glutaric Acidemia Type Ii ◽

Thalassemia Minor

Molecular study of electron transfer flavoprotein α-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II

European Journal of Clinical Investigation ◽

10.1046/j.1365-2362.2002.01045.x ◽

2002 ◽

Vol 32 (9) ◽

pp. 707-712 ◽

Cited By ~ 15

Author(s):

E. Purevjav ◽

M. Kimura ◽

Y. Takusa ◽

T. Ohura ◽

M. Tsuchiya ◽

...

Keyword(s):

Electron Transfer ◽

Molecular Study ◽

Type Ii ◽

Japanese Children ◽

Α Subunit ◽

Mutations and polymorphisms of the gene encoding the β-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II

Human Molecular Genetics ◽

10.1093/hmg/3.3.429 ◽

1994 ◽

Vol 3 (3) ◽

pp. 429-435 ◽

Cited By ~ 31

Author(s):

Irma Colombo ◽

Gaetano Finocchlaro ◽

Barbara Garavaglia ◽

Nicoletta Garbugllo ◽

S. Yamaguchl ◽

...

Keyword(s):

Electron Transfer ◽

Type Ii ◽

Β Subunit ◽

Gene Encoding ◽

Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.

Journal of Clinical Investigation ◽

10.1172/jci116040 ◽

1992 ◽

Vol 90 (5) ◽

pp. 1679-1686 ◽

Cited By ~ 40

Author(s):

E Freneaux ◽

V C Sheffield ◽

L Molin ◽

A Shires ◽

W J Rhead

Keyword(s):

Electron Transfer ◽

Alpha Subunit ◽

Type Ii ◽

Beta Oxidation ◽

Complementary Dna ◽

Dna Mutations ◽

Glutaric Acidemia Type Ii ◽

Polypeptide Synthesis

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.82.13.4517 ◽

1985 ◽

Vol 82 (13) ◽

pp. 4517-4520 ◽

Cited By ~ 92

Author(s):

F. E. Frerman ◽

S. I. Goodman

Keyword(s):

Electron Transfer ◽

Type Ii ◽

Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat

JIMD Reports - JIMD Reports - Case and Research Reports, Volume 13 ◽

10.1007/8904_2013_268 ◽

2013 ◽

pp. 43-51 ◽

Cited By ~ 1

Author(s):

Shoichi Wakitani ◽

Shidow Torisu ◽

Taiki Yoshino ◽

Kazuhisa Hattanda ◽

Osamu Yamato ◽

...

Keyword(s):

Electron Transfer ◽

Novel Mutation ◽

Glutaric Aciduria Type ◽

Type Ii ◽

Glutaric Aciduria ◽

Glutaric Aciduria Type Ii

Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II

Lipids in Health and Disease ◽

10.1186/s12944-017-0576-5 ◽

2017 ◽

Vol 16 (1) ◽

Cited By ~ 4

Author(s):

Ying Xue ◽

Yun Zhou ◽

Keqin Zhang ◽

Ling Li ◽

Abudurexiti Kayoumu ◽

...

Keyword(s):

Electron Transfer ◽

Late Onset ◽

Glutaric Aciduria Type ◽

Chinese Woman ◽

Compound Heterozygous ◽

Type Ii ◽

Glutaric Aciduria ◽

Glutaric Aciduria Type Ii ◽

Compound Heterozygous Mutations

Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report

Clinical Neurology and Neurosurgery ◽

10.1016/j.clineuro.2019.105553 ◽

2020 ◽

Vol 189 ◽

pp. 105553

Author(s):

Laura Rose ◽

Katherine Hall ◽

Sha Tang ◽

Linda Hasadsri ◽

Virginia Kimonis

Keyword(s):

Case Report ◽

Type Ii ◽

Identification of a novel pathogenic COL4A3 gene mutation in a Chinese family with autosomal dominant Alport syndrome: A case report

Biomedical Reports ◽

10.3892/br.2021.1466 ◽

2021 ◽

Vol 15 (5) ◽

Author(s):

Da-An Nie ◽

Chao-Rui Xia ◽

Ke-Cheng Huang ◽

Jie Liu ◽

Ting Gan ◽

...

Keyword(s):

Case Report ◽

Gene Mutation ◽

Alport Syndrome ◽

Autosomal Dominant ◽

Chinese Family

Glutaric Aciduria Type II: Evidence for a Defect Related to the Electron Transfer Flavoprotein or Its Dehydrogenase

Pediatric Research ◽

10.1203/00006450-198407000-00020 ◽

1984 ◽

Vol 18 (7) ◽

pp. 663-667 ◽

Cited By ~ 28

Author(s):

E Christensen ◽

S Kølvraa ◽

N Gregersen

Keyword(s):

Electron Transfer ◽

Glutaric Aciduria Type ◽

Type Ii ◽

Glutaric Aciduria ◽

Glutaric Aciduria Type Ii