Malonic aciduria and cardiomyopathy.
Matalon
R
R
Division of Genetics, Miami Children's Hospital, Florida, USA.
Michaels
K
K
Kaul
R
R
Whitman
V
V
Rodriguez-Novo
J
J
Goodman
S
S
Thorburn
D
D
D000138:Acidosis / Q000652:urine*; D002262:Carboxy-Lyases / Q000172:deficiency; D009202:Cardiomyopathies / Q000150:complications / Q000652:urine*; D005347:Fibroblasts / Q000201:enzymology; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008297:Male; D008314:Malonates / Q000652:urine*; D009123:Muscle Hypotonia / Q000150:complications / Q000201:enzymology / Q000652:urine; D012640:Seizures / Q000150:complications
D008314:Malonates; C030290:malonic acid; D002262:Carboxy-Lyases; C021532:malonyl-CoA decarboxylase