about
DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities.Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.Catabolism of branched-chain amino acids in heart failure: insights from genetic models.Aggregation of granulocyte-colony stimulating factor in vitro involves a conformationally altered monomeric state.Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.New developments in the treatment of hyperammonemia: emerging use of carglumic acid.Modelling inborn errors of metabolism in zebrafish.Neurocognitive profiles in MSUD school-age patients.Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation.MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.Atypical phenotype in a boy with a maple syrup urine disease.
P2860
Q34021177-92F7DA25-C3C9-4D9B-9AE0-97A46488D328Q34190871-126BF56A-2DFE-48B1-B285-0AB3F2A00520Q34634888-FA9E1696-7701-4C56-9DE0-AC8867C14996Q36477013-BB5C0F76-AF60-46B5-8EA7-0273235AF36FQ37640465-632F6610-9EBC-4636-8250-DB34D57EE223Q37853025-BEC659EE-8A1C-4C65-AC8F-4EF9E8AAD175Q38209473-0EBD88A0-94FC-4DB8-A976-C8C84DF9E383Q38890001-57A0CA45-F120-4F4B-9FC4-3237DB9880EEQ40909680-97508FBD-7A66-4860-B8F9-60701B7341B3Q41699171-D02F977F-7081-47FA-AC78-6CF01346BC6AQ48590046-C8ECF9CF-8CB2-44CE-BF9B-96905D14DA0C
P2860
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Maple syrup urine disease: it has come a long way.
@en
type
label
Maple syrup urine disease: it has come a long way.
@en
prefLabel
Maple syrup urine disease: it has come a long way.
@en
P1476
Maple syrup urine disease: it has come a long way.
@en
P2093
P304
P356
10.1016/S0022-3476(98)70523-2
P407
P433
P577
1998-03-01T00:00:00Z