J. Cardesa-Garcia

GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia

A. Niederwieser, Nenad Blau, M. Wang et al. · European Journal of Pediatrics · 1984 · 175 citations

Life Sciences, Biochemistry, Genetics +12

Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency

Nenad Blau, Peter Joller, M Atarés et al. · Clinica Chimica Acta · 1985 · 48 citations

Life Sciences, Genetics, Molecular Biology +7

Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome

Enrique Galán‐Gómez, E Blesa Sánchez, Sonia Arias-Castro et al. · European Journal of Medical Genetics · 2007 · 21 citations

Medicine, Obstetrics, Pediatrics +17