About: Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome

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About: Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 1995

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в січні 1995 (uk) article scientifique publié en 1995 (fr) im Januar 1995 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 1995 (ast) artikull shkencor i botuar më 01 janar 1995 (sq) scientific article published on 01 January 1995 (en)
publication date	wds:Q72393898-69FCF4FE-5FFB-426F-9A22-4DA4691B1875
publication date	1995-01-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q72393898-2E393EFE-2589-4368-871D-184254D8F7EA
language of work or name	English
cites work	wds:Q72393898-02E2E9F8-6239-41AB-AFD4-57CAA63AD429 wds:Q72393898-12B2F31A-1818-4E34-B875-CD6B572354E9 wds:Q72393898-17B7BD9C-30D1-40CE-8685-52D7359E44F8 wds:Q72393898-199FFE82-739E-473C-AE77-349609F75C78 wds:Q72393898-43612FCA-6133-4A80-9F4A-683823965566 wds:Q72393898-5A5DB679-4343-4A33-9498-1A7B990115BD wds:Q72393898-8D80002B-CBD8-4C80-BF11-0BA185FE2701 wds:Q72393898-C7D5EF76-90FE-4AA4-A7D6-62A49CDE0B43 wds:Q72393898-D26B721E-DE3E-45EF-BFAD-6C2B69AFF8DD wds:Q72393898-F5AF08AD-B593-4E78-8883-E0ED4B1F5FBF
cites work	The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis The pharmacology of dichloroacetate A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction. Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death
author name string	wds:Q72393898-4EE00732-5420-4EA8-B8E6-86AD6A249546 wds:Q72393898-4EE6C719-B92B-4631-B8CB-967B758DB359 wds:Q72393898-8357C039-CB97-463D-AE2F-AC7AE431CB83 wds:Q72393898-838AFB7D-4CA6-4D2A-9978-B50BC591B4AA wds:Q72393898-F2894167-03AC-4F6B-BFF1-16FFA3508028 wds:Q72393898-FDF6E2A9-DE33-480D-B8F4-5445D85238DC
author name string	C Jakobs D C De Vivo N Amir W Ruitenbeek V Barash O N Elpeleg
rdfs:label	Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (en) Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (nl) Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (sq)
skos:prefLabel	Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (en) Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (nl) Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (sq)
name	Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (en) Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (nl) Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (sq)
title	wds:Q72393898-A4293A98-B298-4C7F-9F67-BD5C432BAC6B
title	Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome (en)
page(s)	wds:Q72393898-37C223B6-4756-4507-BCFF-A59D11EAC30B
page(s)	72-74
instance of	wds:Q72393898-27F8784C-D824-4209-9D73-1DAE4DAD6F64
instance of	scholarly article
PubMed ID	wds:Q72393898-BEDEBDBD-F683-4A82-B7AB-E7655C4F176A
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/7815230
PubMed ID	7815230
published in	wds:Q72393898-DC96EBD1-4B3F-433B-B11A-E25A1F0F6367
published in	The Journal of Pediatrics
issue	wds:Q72393898-7082986E-5111-4BFB-8EC1-C6270767C547
volume	wds:Q72393898-19DADAC8-1715-4BA5-9AB4-17A0B820385B
issue	1
volume	126
DOI	wds:Q72393898-0CA1F268-54A5-4B69-811B-8BF6FA9784AE
DOI	http://dx.doi.org/10.1016/S0022-3476(95)70506-6
DOI	10.1016/S0022-3476(95)70506-6
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q72393898
is cites work of	Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency Multiple presentation of mitochondrial disorders Glucose/mitochondria in neurological conditions Treatment of congenital lactic acidosis with dichloroacetate The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis Lipoamide dehydrogenase activity in lymphocytes The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family Mitochondrial Disease Lipoamide dehydrogenase deficiency: a newly discovered cause of acute hepatitis in adults.
is cites work of	wds:Q34991055-91FCE2F1-246C-4467-AC50-554D9BB28941 wds:Q73785209-57CF0490-D1C8-47E1-8A24-ABE04DF89CAD wds:Q63256350-B189A0AC-8585-43B0-B573-00BA15909F07 wds:Q35264537-608AD620-B156-48CD-8822-999AE9EDE2E7 wds:Q37125579-FFDDB6BC-B2A7-4D68-8109-C4591F0AB6CF wds:Q51567657-7ECCC995-9673-44BC-BD2F-3606528AB2B6 wds:Q73701269-18D8C8F0-8F39-4167-98D1-999B590B289A wds:Q34320251-4908D9A6-5260-42FE-91CE-F8DD87EDBCE0 wds:Q74439860-174C81DE-69B9-4DFC-88E6-1292914D1182 wds:Q83120646-2872E1DA-1B48-4C6B-AE91-F1291A3A28E6 wds:Q34536343-12B97BFC-EB59-46B5-AF91-2006509E73DE wds:Q37769674-B4B1378D-25BA-4B40-B7E3-833DD73672E0 wds:Q37730164-42127E8C-7A2A-4210-A6CE-D760D1D3B0E6 wds:Q35257790-0ECE8CB2-C36A-4D87-A721-CCE68274DA60

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