Results 221 to 230 of about 21,421 (302)
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Inborn Errors of Amino Acid and Organic Acid Metabolism
1998Each of the 30 to 40 inborn errors of amino acid and or organic acid metabolism represent a rare occurrence in perinatal medicine. However, their combined incidence is about 1/4000 in the neonatal period. Their importance derives from what they tell us about intermediary metabolism and from the fact that these are generally treatable diseases if ...
G. Berry, M. Batshaw
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INBORN ERRORS OF AMINO-ACID METABOLISM
British Medical Bulletin, 1969C. Scriver
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Journal of Pediatric Endocrinology & Metabolism (JPEM), 2023
Objectives There is growing concern about the low-protein and high-energy diet therapies used in the treatment of inherited amino acid metabolism disorders.
M. Balcı +9 more
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Objectives There is growing concern about the low-protein and high-energy diet therapies used in the treatment of inherited amino acid metabolism disorders.
M. Balcı +9 more
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Free radical research, 2021
India, resembling other developing nations, is confronting a hastening demographic switch to non-communicable diseases. Inborn errors of metabolism (IEM) constitute a varied heterogeneous group of disorders with variable clinical appearance, primarily in
S. Ray, S. Mukherjee
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India, resembling other developing nations, is confronting a hastening demographic switch to non-communicable diseases. Inborn errors of metabolism (IEM) constitute a varied heterogeneous group of disorders with variable clinical appearance, primarily in
S. Ray, S. Mukherjee
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Inborn errors of bile acid metabolism in Japan
Pediatrics International, 2023Bile acids are a category of steroids biosynthesized from cholesterol in the liver. Inborn errors of their metabolism are inherited in an autosomal recessive manner, resulting in enzyme deficiencies affecting the bile acid biosynthetic pathway.
T. Mizuochi +3 more
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A Survey of Inborn Errors of Amino Acid Metabolism and Transport in Man
Annual Review of Biochemistry, 1981D, Wellner, A, Meister
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Nutrition support of inborn errors of amino acid metabolism
International Journal of Bio-Medical Computing, 1985Programs for nutrition support of patients with phenylketonuria, maternal phenylketonuria, branched chain ketoaciduria and vitamin B-6 non-responsive homocystinuria were written in BASIC. These programs plan diets to fill diet prescriptions using natural foods, available amino acid-free or restricted elemental products, milk or infant proprietary ...
B, Kennedy, K, Anderson, P B, Acosta
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Comprehensive Determination of Amino Acids for Diagnosis of Inborn Errors of Metabolism
2022Analysis of clinically relevant amino acids using ion exchange chromatography coupled to photometric/fluorescent detection has been an indispensable component in the detection of inborn errors of metabolism for six decades. Detection of amino acids using mass spectrometry offers advantages in speed and analytic specificity.
Stephen M, Roper +2 more
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Pediatrics, 1967
It is clear that, although further screening programs of neurologically defective subjects are bound to uncover more unusual defects in intermediary metabolism, we are still at a loss to explain the pathogenesis for the cerebral abnormality in the most ...
J. Menkes
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It is clear that, although further screening programs of neurologically defective subjects are bound to uncover more unusual defects in intermediary metabolism, we are still at a loss to explain the pathogenesis for the cerebral abnormality in the most ...
J. Menkes
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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
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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