Results 141 to 150 of about 538,734 (195)

The Metabolic Architecture of Glaucoma: A Unified Framework of Cofactor Failure and Kynurenine Dysregulation. [PDF]

open access: yesInt J Mol Sci
Caikovska L   +6 more
europepmc   +1 more source

Follow-up and outcome of patients with primary BH4 deficiencies. [PDF]

open access: yesFront Neurol
Nardecchia F   +5 more
europepmc   +1 more source

A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China. [PDF]

open access: yesInt J Neonatal Screen
Yao Q   +9 more
europepmc   +1 more source

Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Obesity Risk. [PDF]

open access: yesGenes (Basel)
Tummolo A   +7 more
europepmc   +1 more source

DNAJC12 Stabilizes Phenylalanine Hydroxylase and Facilitates Its Substrate-Dependent Activation. [PDF]

open access: yesFASEB J
Tai MDS   +7 more
europepmc   +1 more source

Targeting Mutant Phenylalanine Hydroxylase With Pyrimidine-Triazole Conjugates: A Primary Framework for Candidate Chaperone-Based Strategies in Phenylketonuria. [PDF]

open access: yesFASEB J
Chaturvedi S   +15 more
europepmc   +1 more source

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