Results 101 to 110 of about 62,038 (258)
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review
Molecular Genetics and Metabolism ReportsBroad biochemical complexity and frequent overlapping clinical symptoms of inborn errors of metabolism (IEM), especially in energy-deficient patients, make accurate diagnosis difficult.
Fatimah Diana Amin Nordin +5 more
doaj +1 more source
C1r deficiency: an inborn error associated with cutaneous and renal disease [PDF]
, 1972 N K Day +6 more
openalex +1 more source
Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. [PDF]
, 1974 N. J. Brandt +3 more
openalex +1 more source
Genetical theory and the "inborn errors of metabolism". [PDF]
, 1970 H. Harris
openalex +1 more source
Book Review: Phenylketonuria and Some other Inborn Errors of Amino Acid Metabolism [PDF]
, 1972 D. N. Raine
openalex +1 more source
Book Review: Inborn Errors of Calcium and Bone Metabolism [PDF]
, 1977 B. E. C. Nordin
openalex +1 more source
On Fodor on Darwin on Evolution [PDF]
, 2009 Jerry Fodor argues that Darwin was wrong about "natural selection" because (1) it is only a tautology rather than a scientific law that can support counterfactuals ("If X had happened, Y would have happened") and because (2) only minds can select.
Harnad, Stevan
core +1 more source
D-Glyceric Acidemia: An Inborn Error Associated with Fructose Metabolism [PDF]
, 1987 M. Durán +4 more
openalex +1 more source