Concepedia
The Journal of Pediatrics · 1970 · 55 citations · 14 references
Congenital LysinuriaUrologyBiochemistryDibasic Amino AcidsInherited Metabolic DiseaseMedicineLysosomal Storage Disease
14
Automatic Recording Apparatus for Use in Chromatography of Amino Acids
D. Spackman, William H. Stein, Stanford Moore · Analytical Chemistry · 1958 · 9.6K citations
Engineering, Altmetric Attention Score, Gas Chromatography +18
The Metabolic Basis of Inherited Disease.
Annals of Internal Medicine · 1988 · 7.8K citations
Metabolic Syndrome, Energy Metabolism, Disease Mechanism +12
Cystinuria: biochemical evidence for three genetically distinct diseases.
Leah Rosenberg, Sylvia J. Downing, J. L. Durant et al. · Journal of Clinical Investigation · 1966 · 291 citations · Full text
Pathogenesis, Biochemical Genetics, Pathology +2
PROTEIN INTOLERANCE WITH DEFICIENT TRANSPORT OF BASIC AMINOACIDS
Jaakko Perheentupa, J K Visakorpi · The Lancet · 1965 · 136 citations
Protein Secretion, Biochemistry, Protein Folding +7
Hyperdibasicaminoaciduria: An Inherited Disorder of Amino Acid Transport[34]
Donald T. Whelan, Charles R. Scriver · Pediatric Research · 1968 · 90 citations · Full text
Cerebrospinal Fluid, Amino Acid Transport, Inherited Metabolic Disease +3