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

Luigi Bisceglia, Marı́a Julia Calonge, Antonio Totaro, +10

PubMed

Infantile ascending hereditary spastic paralysis (IAHSP)

Gaëtan Lesca, Éléonore Eymard-Pierre, Filippo M. Santorelli, +9

Neurology

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, +17

Human Heredity

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

Vincenzo Leuzzi, Ca Carducci, Simone Pozzessere, +11

Clinical Genetics

Neurological DisorderGeneticsClinical NeurologyDiagnosisPathology +22

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

A. Niederwieser, W. Leimbacher, H.‐Ch. Curtius, +3

European Journal of Pediatrics

Atypical PhenylketonuriaUrologyBiosynthesisBiochemistryInherited Metabolic Disease +4

Differential diagnosis of tetrahydrobiopterin deficiency

A. Niederwieser, A Ponzone, H.‐Ch. Curtius

Journal of Inherited Metabolic Disease

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

A Ponzone, Ornella Guardamagna, Marco Spada, +4

European Journal of Pediatrics

BiochemistryMedicineDifferential DiagnosisBioanalysisClinical Chemistry +2

Dilemmas and progress in mutation detection

Irma Dianzani, Clara Camaschella, A Ponzone, +1

Trends in Genetics

Mutation-based TestingEngineeringSomatic VariantMedicineGenetics +7

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency

Francesco Porta, Alessandro Mussa, Daniela Concolino, +2

Neurology

Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin

Marco Spada, S. Ferraris, Giovanni Battista Ferrero, +7

Journal of Inherited Metabolic Disease

MedicineBioanalysisSerum ProlactinLaboratory MedicineClinical Chemistry +3