arginine and Niemann-Pick Diseases

arginine has been researched along with Niemann-Pick Diseases in 2 studies

Research

Studies (2)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	2 (100.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Duthel, S; Ferlinz, K; Louisot, P; Rousson, R; Sandhoff, K; Suzuki, K; Vanier, MT	1
Desnick, RJ; Schuchman, EH; Takada, G; Takahashi, T	1

Other Studies

2 other study(ies) available for arginine and Niemann-Pick Diseases

Article	Year
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. Human genetics, 1993, Volume: 92, Issue:4 Topics: Adolescent; Adult; Africa, Northern; Alleles; Arginine; Base Sequence; Cells, Cultured; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Codon; DNA; Fibroblasts; Humans; Infant; Molecular Sequence Data; Niemann-Pick Diseases; Oligonucleotide Probes; Point Mutation; Polymerase Chain Reaction; Prevalence; Sphingomyelin Phosphodiesterase	1993
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. Human mutation, 1992, Volume: 1, Issue:1 Topics: Adult; Amino Acid Sequence; Arginine; Base Sequence; Cells, Cultured; DNA; Female; Humans; Japan; Lymphocytes; Molecular Sequence Data; Mutation; Niemann-Pick Diseases; Oligodeoxyribonucleotides; Pedigree; Polymerase Chain Reaction; Serine; Sphingomyelin Phosphodiesterase	1992

Article

Year

Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.

Human genetics, 1993, Volume: 92, Issue:4

Topics: Adolescent; Adult; Africa, Northern; Alleles; Arginine; Base Sequence; Cells, Cultured; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Codon; DNA; Fibroblasts; Humans; Infant; Molecular Sequence Data; Niemann-Pick Diseases; Oligonucleotide Probes; Point Mutation; Polymerase Chain Reaction; Prevalence; Sphingomyelin Phosphodiesterase

1993

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

Human mutation, 1992, Volume: 1, Issue:1

Topics: Adult; Amino Acid Sequence; Arginine; Base Sequence; Cells, Cultured; DNA; Female; Humans; Japan; Lymphocytes; Molecular Sequence Data; Mutation; Niemann-Pick Diseases; Oligodeoxyribonucleotides; Pedigree; Polymerase Chain Reaction; Serine; Sphingomyelin Phosphodiesterase

1992