Results 101 to 110 of about 7,455 (171)

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

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

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

The Implication of Alpha-Keto Acid Effects on Mitochondrial Respiration in the Etiology of Branched-Chain Ketonuria and Phenylketonuria.

, 1978
George R. Helmer
openalex   +2 more sources

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

Fluorometric method for phenylalanine microplate assay adapted for phenylketonuria screening.

, 1989
Н. С. Герасимова, I. V. Steklova, Tamara Tuuminen   +2 more
openalex   +1 more source

Introducing a granule based protein substitute to the diet of a child with phenylketonuria to address reluctance to ingest phenylalanine-free protein substitute: A case report. [PDF]

Nutr Health
Newby C.
europepmc   +1 more source

Phenylketonuria. [PDF]

Journal of Medical Genetics, 1971
openaire   +2 more sources

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