A new neonatal case ofN‐acetylglutamate synthase deficiency treated by carbamylglutamate

Conditions affecting the colorimetry of orotic acid and orotidine in urine.

1980 • 59 citations

N-Acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication

1991 • 56 citations

N-Acetylglutamate Synthetase Deficiency: A Disorder of Ammonia Detoxication

1981 • 48 citations

N‐acetylglutamate synthetase deficiency, a second patient

1987 • 35 citations

Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period

1987 • 28 citations

Late-onset form of partial N-acetylglutamate synthetase deficiency

1990 • 26 citations

N‐acetylglutamate synthetase deficiency: Clinical and laboratory observations

1990 • 24 citations

PartialN‐acetylglutamate synthetase deficiency: A new case with uncontrollable movement disorders

1992 • 22 citations

Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: Physiologic and biochemical implications

1992 • 21 citations

N-Acetylglutamate Synthetase: Enzyme Assay in Human Liver

1982 • 21 citations

Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity

1989 • 14 citations