A Ponzone

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

Luigi Bisceglia, Marı́a Julia Calonge, Antonio Totaro et al. · PubMed · 1997 · 89 citations

Infantile ascending hereditary spastic paralysis (IAHSP)

Gaëtan Lesca, Éléonore Eymard-Pierre, Filippo M. Santorelli et al. · Neurology · 2003 · 80 citations

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe

Niels Gregersen, Vibeke Winter, Diana Curtis et al. · Human Heredity · 1993 · 69 citations

Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency

Vincenzo Leuzzi, Ca Carducci, Simone Pozzessere et al. · Clinical Genetics · 2010 · 59 citations · Full text

Neurological Disorder, Genetics, Clinical Neurology +24

Atypical phenylketonuria with ?dihydrobiopterin synthetase? deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liver

A. Niederwieser, W. Leimbacher, H.‐Ch. Curtius et al. · European Journal of Pediatrics · 1985 · 52 citations

Atypical Phenylketonuria, Urology, Biosynthesis +6