Results 141 to 150 of about 7,483 (223)

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

Emphasis on the importance of comprehensive clinical and genetic analysis - spinal muscular atrophy combined with phenylketonuria: A case report. [PDF]

Medicine (Baltimore)
Ma K, Wang D, Hu W, Wang J, Yu C, Cui Z, Liu F.   +6 more
europepmc   +1 more source

Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria

, 1973
Paul A. Friedman, Daniel B. Fisher, Ellen S. Kang, Seymour Kaufman   +3 more
openalex   +1 more source

Arginase deficiency and phenylketonuria. [PDF]

, 1986
Paul Cutler
openalex   +1 more source

The effect of the nitrogen source on metabolism in Phenylketonuria [PDF]

, 2021
Maria João Rodrigues Carvalho Pena
core  

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

Nutritional management of the female with phenylketonuria during pregnancy

, 1977
SM Pueschel, Cindy Hum, Mary Andrews
openalex   +1 more source

What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review. [PDF]

Orphanet J Rare Dis
Remor E, Gabe KM, Teruya KI, Doederlein Schwartz IV.   +3 more
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

Genetic analysis of treated and untreated phenylketonuria in one family. [PDF]

, 1990
Linda Tyfield, Andrea L. Meredith, M. Osborn, R Primavesi, Tom Chambers, J. B. Holton, Peter S. Harper   +6 more
openalex   +1 more source