Results 211 to 220 of about 7,599 (237)

Transient hyperphenylalaninemia

The Journal of Pediatrics, 1968
R. G. Lacamera, I. K. Brandt, M. A. Wessel, S. Castells   +3 more
openaire   +3 more sources

PERSISTENT HYPERPHENYLALANINEMIA

Acta Paediatrica, 1972
F, Güttler, E, Wamberg
openaire   +2 more sources

Hyperphenylalaninemia And Pregnancy

Nutrition Reviews, 2009
openaire   +2 more sources

Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach

Brain and Development, 2023
Rachel Sh Wong, Sushil Bandodkar
exaly  

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Metabolic Brain Disease, 2021
Didem Yücel Yılmaz, Kısmet ÇıK, Emine Pekta   +2 more
exaly  

MENDELIAN HYPERPHENYLALANINEMIA

Annual Review of Genetics, 1988
C R, Scriver, S, Kaufman, S L, Woo
openaire   +2 more sources

A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency

Journal of Pediatric Endocrinology and Metabolism, 2023
Dilek Gunes
exaly  

Guides for tetrahydrobiopterin‐responsive hyperphenylalaninemia

Pediatrics International, 2021
openaire   +3 more sources

Examining the blood amino acid status in pretherapeutic patients with  hyperphenylalaninemia

Journal of Clinical Laboratory Analysis, 2020
Lili Liang, Huiwen Zhang, Jun Ye
exaly  

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

American Journal of Human Genetics, 2017
Tobias B Haack, Ben Pode-shakked, Nan Shen   +2 more
exaly