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Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

Known as: Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to, Dihydrolipoamide Dehydrogenase Deficiency, DLD Deficiency 
National Institutes of Health

Related topics

Related topics

3 relations

Broader (2)

Acidosis, LacticMaple Syrup Urine Disease
NADH cytochrome B5 reductase deficiency

Papers overview

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2015
2015
HEPNet: A Knowledge Base Model of Human Energy Pool Network for Predicting the Energy Availability Status of an Individual
HEPNet is an electronic representation of metabolic reactions occurring within human cellular organization focusing on inflow and… 
Highly Cited
1996
Highly Cited
1996
Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.
An infant girl with elevated blood lactate, pyruvate, and plasma branched-chain amino acids was diagnosed with dihydrolipoamide… 
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