Hypersarcosinemia with craniostenosis-syndactylism syndrome.
Hypersarcosinemia with craniostenosis-syndactylism syndrome. After a sarcosine loading the sarcosine-glycine ratios seem to be a more reliable criterion to distinguish different genotypes than the sarcosine tolerance curves.
D000592:Amino Acid Metabolism, Inborn Errors; D003398:Craniosynostoses; D005260:Female; D005998:Glycine / Q000378:metabolism; D006801:Humans; D008297:Male; D012521:Sarcosine / Q000008:administration & dosage / Q000378:metabolism*; D013576:Syndactyly; D013577:Syndrome
D005998:Glycine; D012521:Sarcosine