Results 191 to 200 of about 18,136 (230)

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

Personalized Genotype-Based Approach for Treatment of Phenylketonuria. [PDF]

J Inherit Metab Dis
Gundorova P, Yousefi B, Woidy M, Rose-Heine MS, Khatri R, Kasten V, Bonn S, Muntau AC, Gersting SW.   +8 more
europepmc   +1 more source

Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample. [PDF]

Orphanet J Rare Dis
Teruya KI, Remor E, Schwartz IVD.
europepmc   +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

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

Role of Catalase and Superoxide Dismutase Activities on Oxidative Stress in the Brain of a Phenylketonuria Animal Model and the Effect of Lipoic Acid

, 2012
Tarsila Barros Moraes, Carlos Eduardo Diaz Jacques, Andréa Pereira Rosa, Giovana Reche Dalazen, Melaine Terra, Juliana Gonzalez Coelho, Carlos Severo Dutra‐Filho   +6 more
openalex   +2 more sources

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

Fourteen years of newborn screening for phenylketonuria in Vojvodina

, 2017
Ivana Kavečan, Jadranka Jovanovic, Boris Privrodski, Milan Obrenović, Tatjana Redzek-Mudrinic   +4 more
openalex   +2 more sources

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

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