Results 151 to 160 of about 538,734 (195)

Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms. [PDF]

Ann Afr Med
Sadaria R.
europepmc   +1 more source

Phenylketonuria and type 1 diabetes: a clinical and nutritional challenge in a young adult-a case report. [PDF]

Acta Diabetol
Piccolo C, de Candia S, Natalicchio A, Di Molfetta S, Caruso I, Laviola L, Giorgino F, Sorice GP.   +7 more
europepmc   +1 more source

Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria. [PDF]

Mol Genet Metab Rep
Lubout CMA, van Wegberg AMJ, van Adrichem-van Dam E, Jansen ME, van Steenis EM, Heiner-Fokkema MR, van Spronsen FJ.   +6 more
europepmc   +1 more source

Longitudinal Metabolic Control in Children With Early-Treated Phenylketonuria.

JAMA Netw Open
Wang S, Zhao J, Gong L, Tang Y, Li L, Yang W, Gu L, Kong Y.   +7 more
europepmc   +1 more source

Incidence and epidemiological characteristics of congenital adrenal hyperplasia in Hangzhou newborns, China (2014-2024): a population-based cross-sectional study. [PDF]

Front Pediatr
Dai Y, Zhu L, Zeng Y, Chen Y, Qian X, Li X, Wu T.   +6 more
europepmc   +1 more source

Phenylalanine hydroxylase deficiency: diagnosis and management guideline [PDF]

Genetics in Medicine, 2014
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error of metabolism to be identified through population screening.
Susan A. Berry, Kevin Antshel, John J. Mitchell   +2 more
exaly   +5 more sources

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art

Molecular Genetics and Metabolism, 2003
Since 1999 an increasing number of patients with phenylalanine hydroxylase (PAH) deficiency are reported to be able to decrease their plasma phenylalanine (Phe) concentrations after a 6R-tetrahydrobiopterin (BH(4)) challenge. The majority of these patients have mild PKU or MHP (mild hyperphenylalaninemia) and harbour at least one missense mutation in ...
M Estela Rubio-Gozalbo
exaly   +5 more sources