Saccharopine dehydrogenase deficiency

Known as: Alpha-aminoadipic semialdehyde synthase deficiency, Saccharopinuria

National Institutes of Health

Papers overview

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1986

The main pathway for lysine catabolism in mammalian tissues proceeds through oxidative degradation forming saccharopine as a…

1983

Several lines of evidence are presented that an entity is present in mitochondria which converts lysine and carbamylphosphate to…

1982

Blood amino-acid patterns can be very similar in several disorders diagnosed in the neonatal period. In patients with lactic…

1979

Enzyme assays of skin fibroblasts from five children with familial hyperlysinemia from unrelated families are added to the…

Highly Cited

1977

Highly Cited

1977

1974

Extract: Elevated levels of saecharopine, lysine, and citrulline in urine and plasma were observed in a patient suffering from…

1973

1972

A girl with spastic diplegia excreted large amounts of lysine and saccharopine in the urine, and had more than 10 times the…

1970

Yeast supersuppressor genes capable of masking the effects of several lysine mutant genes (ly(1-1), ly(9-1), ly(2-1)) were…

Highly Cited

1968

Highly Cited

1968

DURING the routine screening of mentally retarded persons in Northern Ireland for amino-acid disorders with the aid of paper…