Results 221 to 230 of about 18,327 (286)

Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T. [PDF]

Orphanet J Rare Dis
Zhang C, Yan Y, Zhou B, Gao H, Jin X, Hui L, Hao S, Cao Z, Ma X.   +8 more
europepmc   +1 more source

Human medicines European public assessment report (EPAR): Palynziq, pegvaliase, Phenylketonurias, Date of authorisation: 03/05/2019, Status: Authorised

, 2019
null null
core   +1 more source

Nutritional Counseling Promotes Adherence to the Mediterranean Diet and Healthy Eating in Italian Patients Affected by Phenylketonuria and Treated with Pegvaliase. [PDF]

Nutrients
Stecchi M, Rossi A, Santoni M, Bandini F, Brodosi L.   +4 more
europepmc   +1 more source

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback. [PDF]

J Inherit Metab Dis
Saudubray JM, Schiff M.
europepmc   +1 more source

Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model. [PDF]

Orphanet J Rare Dis
Wang S, Shen M, Pang B, Zhou B, Yuan Y, Lu M, Deng X, Yang M, Liu S, Wang Q, Xue M, Xia Q, Zhang Z.   +12 more
europepmc   +1 more source

Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6-18 years. [PDF]

Orphanet J Rare Dis
Xue M, Shen M, Wang S, Pang B, Zhang X, Chen K, Zhang Z, Niu W.   +7 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

Another Population of Phenylketonuria? Studies on Atypical Phenylketonurias

Developmental Medicine & Child Neurology, 1969
P. Dyken, W. Culley
semanticscholar   +3 more sources

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Phenylketonuria

The Lancet, 2010
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in ...
Blau, Nenad, van Spronsen, Francjan J, Levy, Harvey L   +2 more
openaire   +3 more sources