Results 161 to 170 of about 19,497 (183)

Phenylketonuria: and Some Other Inborn Errors of Amino Acid Metabolism, Biochemistry, Genetics, Diagnosis and Therapy, edited by Bickel, H., Hudson, F. P., and Woolf, L. I. New York: Intercontinental Medical Book Corporation, 1971, 336 pp., no price given

Pediatrics, 1973
This volume reports the proceedings of a Heidelberg conference on the subject of phenylketonuria and other inborn errors of amino acid metabolism. Although the conference was held in June 1969, and the book published in February 1971, this belated review
C. Scriver
semanticscholar   +1 more source

Diagnosis of inborn errors of amino acid metabolism.

A M A Journal of Diseases of Children, 1967
IN THE PAST, new syndromes were reported when an astute clinical observer noted a pattern of symptoms which had not previously been recognized. Recently, the trend has been toward the description of biochemical aberrations long before the clinical ...
H. Ghadimi
semanticscholar   +1 more source

Blood and urine amino acid aberrations. Physiologic and pathological changes in patients without inborn errors of amino acid metabolism.

A M A Journal of Diseases of Children, 1969
NORMAL values for plasma and urinary amino acids have been presented in a number of studies.1-7The range of reported values is great and varies from one study to another.
R. Feigin
semanticscholar   +1 more source

Special Diets for Infants With Inborn Errors of Amino Acid Metabolism

Pediatrics, 1976
A sufficient variety of semisynthetic dietary products is now available to permit control of amino acid imbalance in several inborn errors of metabolism. However, they must be used carefully, and their effects monitored closely. Continuing development of
M. Holliday, A. S. Anderson, L. Barness, G. Forbes, R. Goldbloom, J. Haworth, M. Jesse, A. Mauer, C. Scriver, M. Winick, O. L. Kline, Robert W. Miller, R. Winters, J. Chopra, Martha M. Freeman, D. O'brien, S. Snyderman, P. Justice   +17 more
semanticscholar   +1 more source

Alanine decreases the protein requirements of infants with inborn errors of amino acid metabolism.

Journal of neurogenetics, 1985
Supplementation with alanine was found to increase growth in weight and nitrogen balance in 5 infants with a variety of inborn errors of amino acid metabolism receiving diets restricted in protein.
J. Wolff, D. Kelts, S. Algert, C. Prodanos, W. Nyhan   +4 more
semanticscholar   +1 more source

Inborn Errors of Amino Acid Metabolism

Amino Acids, 2021
Guoyao Wu
semanticscholar   +1 more source

Human medicines European public assessment report (EPAR): Carbaglu, carglumic acid, Amino Acid Metabolism, Inborn Errors,Propionic Acidemia, Date of authorisation: 24/01/2003, Revision: 17, Status: Authorised

Case Medical Research, 2019

semanticscholar   +1 more source

Human medicines European public assessment report (EPAR): Ucedane, carglumic acid, Hyperammonemia,Amino Acid Metabolism, Inborn Errors, Date of authorisation: 23/06/2017, Revision: 2, Status: Authorised

Case Medical Research, 2019

semanticscholar   +1 more source

Insight on the impacts of free amino acids and their metabolites on the immune system from a perspective of inborn errors of amino acid metabolism

Expert opinion on therapeutic targets, 2017
M. Pakula, T. Maier, T. Vorup-Jensen
semanticscholar   +1 more source

Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism.

Advances in Clinical Chemistry, 2019
William S. Phipps, Patti M Jones, Khushbu K. Patel   +2 more
semanticscholar   +1 more source