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Saccharopine dehydrogenase deficiency

Known as: Alpha-aminoadipic semialdehyde synthase deficiency, Saccharopinuria 
National Institutes of Health

Related topics

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3 relations

Broader (2)

HyperlysinemiasSaccharopine Dehydrogenases
Saccharopinuria

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
Descriptions of phenotypes
  • 2006
  • Corpus ID: 34463962
2 Disease list and descriptions: A 15 2.1 Amino acid (AA) metabolism (aromatic) (Albinism, Alkaptonuria, Tyrosinemia, Waardenburg… 
2004
2004
Screening for CongenitalHypothy-roidism by Assay for Thyrotropin in Dried Blood : Effect of Parenteral Nutrition
  • 2004
  • Corpus ID: 15692054
400 CLINICAL CHEMISTRY, Vol. 29, No. 2, 1983 12. Carson NAJ, Scally BG, Neill DW, Carre IJ. Saccharopinuria: A new inborn error… 
Review
1998
Review
1998
[Saccharopinuria (a variant form of familial hyperlysinemia)].
Review
1991
Review
1991
[Inborn errors of lysine metabolism].
A wide variety of inborn errors of lysine catabolism have been described. They include: abnormalities of the mitochrondrial… 
1985
1985
1260 ALANINE-INDUCED HYPERAMMONEMIA IN HYPERLYSINEMIA AND IN SACCHAROPINURIA
It has been suggested that lysine inhibits urea cycle function both in vivo and in vitro mainly by decreasing arginase activity… 
1983
1983
Separation of ornithine and lysine activities of the ornithine-transcarbamylase-catalyzed reaction.
Several lines of evidence are presented that an entity is present in mitochondria which converts lysine and carbamylphosphate to… 
1982
1982
Amino acid profile in pyruvate carboxylase deficiency: Comparison with some other metabolic disorders
Blood amino-acid patterns can be very similar in several disorders diagnosed in the neonatal period. In patients with lactic… 
1980
1980
Enzyme inhibition as a possible cause of secondary increases in metabolite levels in patients with inborn errors of metabolism
No satisfactory explanation has yet been given for the high levels of citrulline in a patient with saccharopinuria, a disorder of… 
1974
1974
Enzyme Studies in a Patient with Saccharopinuria: A Defect of Lysine Metabolism
Extract: Elevated levels of saecharopine, lysine, and citrulline in urine and plasma were observed in a patient suffering from… 
1972
1972
Saccharopinuria
A girl with spastic diplegia excreted large amounts of lysine and saccharopine in the urine, and had more than 10 times the… 
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