Results 81 to 90 of about 16,232 (245)
Mapping the Severity of Phenylalanine Hydroxylase Deficiency
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Since the 1960s, phenylalanine hydroxylase (PAH) deficiency can be detected via newborn screening, allowing early start of treatment to prevent severe intellectual disability. Precise determination of PAH deficiency severity continues to be hampered by several factors.
S. Haitjema +5 more
wiley +1 more source
LOW-PROTEIN PASTA FOR CHILDREN PATIENTS WITH PHENYLKETONURIA
Пищевые системы, 2019 There are provided data on the work carried out at All-Russian Research Institute for Starch Products to create enriched low-protein pasta based on starch for nutrition the children sick with a phenilketonuria — a hereditary disease (group of ...
S. T. Bykova, T. G. Kalinina
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Tetrahydrobiopterin (BH4; sapropterin) responsiveness in phenylalanine hydroxylase (PAH) deficiency is genotype dependent, yet many patients remain untested. Allelic phenotype values (APV) summarize allele severity, but responsiveness can be heterogeneous within APV strata. We assessed whether integrating functional consequence annotation from
Nastassja Himmelreich, Nenad Blau
wiley +1 more source
Difficulties in maintaining diet in patients with phenylketonuria
, 2018 Phenylketonuria is the most common inborn error of amino acid metabolism. The defect is due to mutations in genes encoding enzymatic proteins, which result in deficient or impaired activity of phenylalanine hydroxylase, an enzyme responsible for ...
Bąk-Romaniszyn, Leokadia +5 more
core +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2005 Objective: To share our experience of prenatal classical phenylketonuria (PKU) diagnosis using the polymerase chain reaction (PCR), automatic sequencing, and linkage analysis with short tandem repeats (STRs).
Wei-Min Hu +5 more
doaj +1 more source
Food Poverty and Early Childhood Development Across Food Insecurity Levels in Brazil
Maternal &Child Nutrition, Volume 22, Issue 3, July 2026.ABSTRACT This cross‐sectional study investigated associations between food insecurity, food poverty, and early childhood development (ECD) among Brazilian children under 5 years of age, and explored whether the association between food poverty and ECD varied across food insecurity levels.
Micaela Rabelo Quadra +6 more
wiley +1 more source
Journal of Rehabilitation, 2013 Objective: This Study aimed to investigate the level of personal-social developmental skills in 1-4 years old children with early treated phenylketonuria.
Zahra Ghadbeigi +4 more
doaj
A Central Somatic Transmission Mediates Proprioceptive Facilitation of Muscle Pain
Advanced Science, Volume 13, Issue 34, 19 June 2026.Zhang et al. uncover a novel central mechanism for persistent muscle pain, in which TRPA1 sensitization in MeV proprioceptive neurons enhances somatic secretion. This, in turn, disinhibits descending pain control from neighboring noradrenergic locus coeruleus neurons via local GABAergic circuits, thereby promoting inflammatory muscle pain.
Xiaoyu Zhang +15 more
wiley +1 more source
Advanced Science, Volume 13, Issue 32, 9 June 2026.ABSTRACT Engineered ascorbate peroxidase APEX2 has been widely used for spatially restricted profiling of subcellular biomolecules, but its catalytic efficiency toward newly developed probes such as biotin‐aniline (Btn‐An) remains suboptimal. To overcome this limitation, we performed yeast surface display‐based directed evolution to enhance APEX2 ...
Gang Wang, Yi Li, Peiyuan Meng, Peng Zou
wiley +1 more source