Results 141 to 150 of about 7,599 (237)

Expanded Newborn Screening in Italy: The First Report of Lombardy Region. [PDF]

Int J Neonatal Screen
Berardo C, Vasco A, Mauri A, Lucchi S, Cappelletti L, Saielli L, Rizzetto M, Biganzoli D, Montrasio C, Postorivo D, Pratiffi E, Meta A, Carelli S, Amorosi A, Paci S, Cefalo G, Furlan F, Menni F, Gasperini S, Crescitelli V, Banderali G, Zuccotti G, Alberti L, Cereda C.   +23 more
europepmc   +1 more source

Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings. [PDF]

BMC Pediatr
Aguirre AS, Haro E, Campodónico A, Arias-Almeida B, Mendoza A, Pozo-Palacios J, Aguilar VIR.   +6 more
europepmc   +1 more source

The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies. [PDF]

Nutrients
Gautiero C, Scala I, Esposito G, Coppola MR, Cacciapuoti N, Fisco M, Ruoppolo M, Strisciuglio P, Parenti G, Guida B.   +9 more
europepmc   +1 more source

Isolation of 6-Pyruvoyl-tetrahydropterin Synthase cDNAs from Human Brain [PDF]

, 2017
Blau, Nenad, Heizmann, Claus W., Kluge, Claudia, Leimbacher, Walter, Thöny, Beat   +4 more
core  

Genomic Organization of Mouse and Human GTP Cyclohydrolase I Genes and Mutations Found in the Human Gene [PDF]

, 2017
Blau, Nenad, Ichinose, Hiroshi, Matalon, Reuben, Nagatsu, Toshiharu   +3 more
core  

Dystonia and Dopaminergic Therapy: Rationale Derived from Pediatric Neurotransmitter Diseases [PDF]

, 2012
Hiroki Fujioka
core   +2 more sources

Quality of Life in Patients with Phenylketonuria: A Systematic Review. [PDF]

Adv Biomed Res
Jahangiri Z, Rostampour N, Hovsepian S, Chegini R, Hashemipour M.   +4 more
europepmc   +1 more source

Effects of Granulocyte-Colony-Stimulating Factor in Neutropenic AIDS-Patients [PDF]

, 1992
Bogner, Johannes R., Goebel, Frank-Detlef, Heinrich, B., Kronawitter, U., Matuschke, A.   +4 more
core   +1 more source

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up. [PDF]

Nutrients
Consentino MC, La Spina L, Meli C, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +12 more
europepmc   +1 more source

The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks. [PDF]

Orphanet J Rare Dis
Dos Santos Y, Trefz F, Giżewska M, van Wegberg AMJ, Lefort B, Labarthe F, van Spronsen F, Maillot F.   +7 more
europepmc   +1 more source