J. Cardesa-Garcia

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

N. Blau, J. Cardesa-García, A. Niederwieser, 1985, Clinica chimica acta; international journal of clinical chemistry.

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

E. Galán-Gómez, E. B. Sánchez, S. Arias-Castro, 2007, European journal of medical genetics.

Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.

J. Frías, M. Martínez‐Frías, E. Galán‐Gómez, 1995, American journal of medical genetics.

Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome.

E. Galán-Gómez, J. Cardesa-García, C. Cáceres-Marzal, 2008, European journal of medical genetics.

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

N. Blau, J. Cardesa-García, A. Niederwieser, 1984, European Journal of Pediatrics.

A diagnostic conundrum: Two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?

J. Frías, José María Carbonell‐Pérez, M. Martínez‐Frías, 2004, American journal of medical genetics. Part A.