Zobrazeno 1 - 10
of 38
pro vyhledávání: '"S I, Goodman"'
Publikováno v:
Clinical Genetics. 4:236-240
Argininosuccinic aciduria (ASAuria) is an inherited disorder of ureogensis characterized by periodic hyperammonemia, seizures, and mental retardation. Transabdominal amniocentesis was performed at 16 weeks' gestation on a 31-year-old female whose one
Autor:
P M, Jones, R, Quinn, P V, Fennessey, S, Tjoa, S I, Goodman, S, Fiore, A B, Burlina, P, Rinaldo, R L, Boriack, M J, Bennett
Publikováno v:
Clinical chemistry. 46(2)
Disorders of fatty acid oxidation (FAO) are difficult to diagnose, primarily because in many of the FAO disorders measurable biochemical intermediates accumulate in body fluids only during acute illness. Increased concentrations of 3-hydroxy-fatty ac
Autor:
S I, Goodman, D E, Stein, S, Schlesinger, E, Christensen, M, Schwartz, C R, Greenberg, O N, Elpeleg
Publikováno v:
Human mutation. 12(3)
Glutaric acidemia type I (GA1) is caused by mutations in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCD). Sixty-three pathogenic mutations identified by several laboratories are presented, 30 of them for the first time, together with da
Autor:
C L, Greene, S I, Goodman
Publikováno v:
Clinics in perinatology. 24(4)
The newborn who presents with neurologic symptoms such as seizures or lethargy due to inborn error of metabolism is an important problem. Although each inborn error that presents in this manner is rare, these conditions are not rare as a group, and m
Publikováno v:
American journal of human genetics. 59(5)
The structure of the human glutaryl coenzyme A dehydrogenase (GCD) gene was determined to contain 11 exons and to span approximately 7 kb. Fibroblast DNA from 64 unrelated glutaric acidemia type I (GA1) patients was screened for mutations by PCR ampl
Publikováno v:
The Journal of biological chemistry. 269(51)
Electron transfer flavoprotein (ETF) is a heterodimer that contains a single equivalent of FAD and accepts electrons from nine flavoprotein dehydrogenases in the mitochondrial matrix. Human ETF was expressed in Escherichia coli using the expression v
Publikováno v:
Progress in clinical and biological research. 375
Publikováno v:
Progress in clinical and biological research. 375
Autor:
S I, Goodman, C L, Greene
Publikováno v:
Seminars in perinatology. 15(1 Suppl 1)
Autor:
S I, Goodman, F E, Frerman
Publikováno v:
Progress in clinical and biological research. 321