Concepedia
Analytical and Bioanalytical Chemistry · 2011 · 40 citations · 31 references
MedicineBioanalysisMetabolomic ProfilingPathologyLaboratory MedicineCitrin DeficiencyMetabolic ProfilingMetabolomicsMolecular Diagnostics
31
The metabolic and molecular bases of inherited disease
Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations
Disease Mechanism, Genetic Disorder, Genetics +6
Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria
Luigi Palmieri, Beatriz Pardo, Francesco M. Lasorsa et al. · The EMBO Journal · 2001 · 496 citations · Full text
Signal Transduction, Molecular Physiology, Mitochondrial Function +5
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
Keiko Kobayashi, David S. Sinasac, Mikio Iijima et al. · Nature Genetics · 1999 · 409 citations
Mitochondrial Biogenesis, Mitochondrial Function, Genetic Disorder +9
Urea cycle enzymes
Sw Brusilow · Medical Entomology and Zoology · 2001 · 347 citations
Cellular Enzymology, Biochemistry, Enzyme Catalysis +2
Murine cystathionine γ-lyase: complete cDNA and genomic sequences, promoter activity, tissue distribution and developmental expression
Isao Ishii, Noriyuki Akahoshi, Xiao‐Nian Yu et al. · Biochemical Journal · 2004 · 273 citations · Full text