Results 171 to 180 of about 26,955 (257)

Assessing sleep habits in school-aged children with phenylketonuria: a comparative study. [PDF]

Eur J Pediatr
Mete Yeşil A, Akar HT, Yıldız Y, Sivri S, Özmert EN.   +4 more
europepmc   +1 more source

Phenylketonuria. [PDF]

Journal of Medical Genetics, 1971
openaire   +2 more sources

Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan. [PDF]

Kobe J Med Sci
Hong S, Iketani K, Sonehara S, Hanafusa H, Nambu Y, Nozu K, Awano H, Bo R.   +7 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

Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study.

Molecular Genetics and Metabolism, 2017
D. Bilder, J. Kobori, J. Cohen-Pfeffer, Erin M. Johnson, E. Jurecki, M. Grant   +5 more
semanticscholar   +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

Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran. [PDF]

Orphanet J Rare Dis
Salarian L, Ilkhanipoor H, Amirhakimi A, Afshar Z, Nahid S, Moradi Ardekani F, Rahimi N, Yazdani N, Nikravesh A, Beyzaei Z, Moravej H.   +10 more
europepmc   +1 more source

Physicochemical properties of a low-phenylalanine peptide substance as a foodstuff for patients with phenylketonuria.

, 1988
Soich ARAI, Akiko MAEDA, Michiko Watanabe   +2 more
openalex   +2 more sources

A Cross-Sectional Study on Protein Substitutes for Paediatric Phenylketonuria Diet: Time to Pay Attention. [PDF]

Nutrients
Tummolo A, Carella R, De Giovanni D, Di Tullio V, Lorusso L, Bartolomeo N.   +5 more
europepmc   +1 more source

Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients. [PDF]

Eur J Neurol
Burlina AP, Manara R, Carretta J, Cazzorla C, Loro C, Gragnaniello V, Burlina AB.   +6 more
europepmc   +1 more source