proline and Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency

proline has been researched along with Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency in 1 studies

Research

Studies (1)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	1 (100.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Braulke, T; Gal, A; Kossow, K; Meyer, A; Mühlhausen, C; Muschol, N; Steglich, C; Ullrich, K	1

Other Studies

1 other study(ies) available for proline and Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency

Article	Year
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Human mutation, 2008, Volume: 29, Issue:5 Topics: Adolescent; Adult; Child; Child, Preschool; Disease Progression; Female; Genotype; Humans; Hydrolases; Infant; Infant, Newborn; Male; Mucopolysaccharidosis III; Mutation; Phenotype; Proline; Serine	2008

Article

Year

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

Human mutation, 2008, Volume: 29, Issue:5

Topics: Adolescent; Adult; Child; Child, Preschool; Disease Progression; Female; Genotype; Humans; Hydrolases; Infant; Infant, Newborn; Male; Mucopolysaccharidosis III; Mutation; Phenotype; Proline; Serine

2008