Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing

Next Generation ◽

Complex Deficiency ◽

Generation Sequencing ◽

Biochemical Features ◽

A Case of Early Diagnosis of Pyruvate Dehydrogenase Complex Deficiency: The Use of Next-Generation Sequencing

Iranian Journal of Pediatrics ◽

10.5812/ijp.84965 ◽

2019 ◽

Vol In Press (In Press) ◽

Author(s):

Ju Hee Kim ◽

Hye-Rim Kim ◽

Ja Hyun Jang ◽

Heui Seung Jo ◽

Kyu Hyung Lee

Keyword(s):

Next Generation Sequencing ◽

Early Diagnosis ◽

Pyruvate Dehydrogenase ◽

Next Generation ◽

Complex Deficiency ◽

Generation Sequencing ◽

Phenotypic and biochemical features of pyruvate dehydrogenase complex deficiency: a retrospective cohort study at the hospital for sick children

Journal of the Neurological Sciences ◽

10.1016/j.jns.2015.08.700 ◽

2015 ◽

Vol 357 ◽

pp. e203

Author(s):

M. Inbar-Feigenberg ◽

J.M. Cameron ◽

J.T. Clark ◽

A. Feigenbaum ◽

S. Hewson ◽

...

Keyword(s):

Cohort Study ◽

Pyruvate Dehydrogenase ◽

Retrospective Cohort Study ◽

Retrospective Cohort ◽

Complex Deficiency ◽

Sick Children ◽

Biochemical Features ◽

Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency

Biochimie ◽

10.1016/j.biochi.2021.02.007 ◽

2021 ◽

Cited By ~ 1

Author(s):

Hana Pavlu-Pereira ◽

Diana Lousa ◽

Catarina S. Tomé ◽

Cristina Florindo ◽

Maria João Silva ◽

...

Keyword(s):

Pyruvate Dehydrogenase ◽

Functional Impact ◽

Complex Deficiency ◽

Identification of a Gene for the Pyruvate Dehydrogenase E1? Subunit with a Deletion of Four Nucleotides from a Patient with Pyruvate Dehydrogenase Complex Deficiency

Annals of the New York Academy of Sciences ◽

10.1111/j.1749-6632.1989.tb15039.x ◽

1989 ◽

Vol 573 (1 Alpha-Keto Ac) ◽

pp. 458-460 ◽

Cited By ~ 1

Author(s):

HITOSHI ENDO ◽

KIYOSHI HASEGAWA ◽

KUNIAKI NARISAWA ◽

KEIYA TADA ◽

YASUO KAGAWA ◽

...

Keyword(s):

Pyruvate Dehydrogenase ◽

Complex Deficiency ◽

A Mutation in the E1α Subunit of Pyruvate Dehydrogenase Associated with Variable Expression of Pyruvate Dehydrogenase Complex Deficiency

Pediatric Research ◽

10.1203/00006450-199208000-00009 ◽

1992 ◽

Vol 32 (2) ◽

pp. 169-174 ◽

Cited By ~ 26

Author(s):

Isaiah D Wexler ◽

Sullia G Hemalatha ◽

Te-Cheung Liu ◽

Susan A Berry ◽

Douglas S Kerr ◽

...

Keyword(s):

Pyruvate Dehydrogenase ◽

Variable Expression ◽

Complex Deficiency ◽

Pyruvate dehydrogenase complex deficiency: Biochemical and immunoblot analysis of cultured skin fibroblasts

Annals of Neurology ◽

10.1002/ana.410260610 ◽

1989 ◽

Vol 26 (6) ◽

pp. 746-751 ◽

Cited By ~ 27

Author(s):

Susan E. Old ◽

Darryl C. de Vivo

Keyword(s):

Pyruvate Dehydrogenase ◽

Immunoblot Analysis ◽

Skin Fibroblasts ◽

Cultured Skin ◽

Complex Deficiency ◽

Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

Human Mutation ◽

10.1002/(sici)1098-1004(1996)7:1<46::aid-humu6>3.0.co;2-n ◽

1996 ◽

Vol 7 (1) ◽

pp. 46-51 ◽

Cited By ~ 27

Author(s):

Willy Lissens ◽

Linda De Meirleir ◽

Sara Seneca ◽

Chantal Benelli ◽

Cécile Marsac ◽

...

Keyword(s):

Mutation Analysis ◽

Pyruvate Dehydrogenase ◽

Complex Deficiency ◽

Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency

Mitochondrion ◽

10.1016/j.mito.2006.04.001 ◽

2006 ◽

Vol 6 (3) ◽

pp. 126-135 ◽

Cited By ~ 53

Author(s):

Kristen Berendzen ◽

Douglas W. Theriaque ◽

Jonathan Shuster ◽

Peter W. Stacpoole

Keyword(s):

Pyruvate Dehydrogenase ◽

Therapeutic Potential ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency Caused by Ubiquitination and Proteasome-mediated Degradation of the E1β Subunit

Journal of Biological Chemistry ◽

10.1074/jbc.m704748200 ◽

2007 ◽

Vol 283 (1) ◽

pp. 237-243 ◽

Cited By ~ 20

Author(s):

Zongchao Han ◽

Li Zhong ◽

Arun Srivastava ◽

Peter W. Stacpoole

Keyword(s):

Pyruvate Dehydrogenase ◽

Complex Deficiency ◽

Effect of pyruvate dehydrogenase complex deficiency on l-lysine production with Corynebacterium glutamicum

Applied Microbiology and Biotechnology ◽

10.1007/s00253-007-0904-1 ◽

2007 ◽

Vol 76 (3) ◽

pp. 615-623 ◽

Cited By ~ 47

Author(s):

Bastian Blombach ◽

Mark E. Schreiner ◽

Matthias Moch ◽

Marco Oldiges ◽

Bernhard J. Eikmanns

Keyword(s):

Corynebacterium Glutamicum ◽

Pyruvate Dehydrogenase ◽

Lysine Production ◽

Complex Deficiency ◽