Results 351 to 360 of about 36,711 (394)

4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism

, 1984
G. Addison, R. Chalmers, P. Divry, R. Harkness, R. Pollitt   +4 more
semanticscholar   +1 more source

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

American Journal of Medical Genetics. Part A, 2012
A. Alazami, D. Monies, B. Meyer, F. Alzahrani, M. Hashem, M. Salih, F. Alkuraya   +6 more
semanticscholar   +1 more source

L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?

Journal of Inherited Metabolic Disease, 1980
Mar Durán, J. Kamerling, H. Bakker, A. H. Gennip, S. K. Wadman   +4 more
semanticscholar   +1 more source

Familial serum-cholesterol esterification failure. A new inborn error of metabolism.

Biochimica et Biophysica Acta, 1967
K. Norum, E. Gjone
semanticscholar   +1 more source

Inborn errors of metabolism

Seminars in Neonatology, 2002
openaire   +3 more sources

LncRNA‐mediated posttranslational modifications and reprogramming of energy metabolism in cancer

Cancer Communications, 2021
Rui-hua Xu, Huai-qiang Ju, Xiaobing Wang
exaly  

Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism

Science, 1970
C. Mapes, R. Anderson, C. Sweeley, R. Desnick, W. Krivit   +4 more
semanticscholar   +1 more source

Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.

The Lancet, 1968
R. Pollitt, F. Jenner, H. Merskey
semanticscholar   +1 more source

Inborn Errors of Metabolism

Annual Review of Biochemistry, 1962
openaire   +3 more sources

Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism.

The Lancet, 1965
Jaakko Perheentupa, J. Visakorpi
semanticscholar   +1 more source