Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Life Sciences, Genetics, Molecular Genetics +13

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Keiko Kobayashi, David S. Sinasac, Mikio Iijima et al. · Nature Genetics · 1999 · 414 citations

Life Sciences, Genetics, Molecular Genetics +8

Niemann-Pick disease type C: Diagnosis and outcome in children, with particular reference to liver disease

Déirdre Kelly, Bernard Portmann, Alex P. Mowat et al. · The Journal of Pediatrics · 1993 · 188 citations

Medicine, Pathology, Pediatrics +14

Orthotopic liver transplantation for urea cycle enzyme deficiency

Satoru Todo, Thomas E. Starzl, Andreas G. Tzakis et al. · Hepatology · 1992 · 135 citations · Full text

Life Sciences, Biochemistry, Hepatology +16

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Tomotsugu Yasuda, Naoki Yamaguchi, Keiko Kobayashi et al. · Human Genetics · 2000 · 133 citations

Life Sciences, Genetics, Molecular Genetics +9