Tetrahydrobiopterin, responsive, hyperphenylalaninemia without biopterin defiCIency

Tetrahydrobiopterin, responsive, hyperphenylalaninemia without biopterin defiCIency

Bibliographic Details
Main Authors:	Shintaku Haruo, Asada Minoru, Sawada Yoshitomo, Yamano Tsunekazu
Format:	Article
Language:	English
Published:	De Gruyter 2000-08-01
Series:	Pteridines
Online Access:	https://doi.org/10.1515/pteridines.2000.11.3.83

Similar Items

Biopterin-deficient hyperphenylalaninemia: Diagnosis and treatment
by: E. A. Nikolaeva, et al.
Published: (2016-03-01)

Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH4)-responsiveness in patients with hyperphenylalaninemia
by: Barbka Repic Lampret, et al.
Published: (2022-04-01)

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants
by: Seyedeh Helia Sadat Fatemi, et al.
Published: (2022-12-01)

Biopterin and Neopterin in Various Milks and Infant Formulas
by: Nishimura A., et al.
Published: (1991-02-01)

Congenital Diaphragmatic Hernia and Iron Defi ciency Anemia
by: Şinasi Özsoylu
Published: (2013-06-01)

BH4-deficient hyperphenylalaninemia in Russia.
by: Polina Gundorova, et al.
Published: (2021-01-01)

Prenatal Diagnosis of Tetrahydrobiopterin (BH4) Synthase Deficiency
by: Shintaku H., et al.
Published: (1991-02-01)

The value of simultaneous determination of blood large neutral amino acids and tetrahydrobiopterin metabolites in the diagnosis of atypical hyperphenylalaninemia
by: Nadia Salama, et al.
Published: (2024-01-01)

Impaired systemic tetrahydrobiopterin bioavailability and increased oxidized biopterins in pediatric falciparum malaria : association with disease severity
by: Granger, Donald L., et al.
Published: (2015)

Impaired systemic tetrahydrobiopterin bioavailability and increased oxidized biopterins in pediatric falciparum malaria: association with disease severity.
by: Matthew P Rubach, et al.
Published: (2015-03-01)

Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan
by: Shino Odagiri, et al.
Published: (2021-03-01)

Effects of Zinc Sulfate Supplementation in Treatment of Iron Defi ciency Anemia
by: Meltem Gülşan, et al.
Published: (2013-06-01)

CHRONIC ORAL TETRAHYDROBIOPTERIN TREATMENT IN PATIENTS WITH CORONARY ARTERY DISEASE ELEVATES TOTAL BIOPTERIN LEVELS BUT DOES NOT IMPROVE BIOPTERIN REDOX STATUS OR VASCULAR FUNCTION: A RANDOMISED PLACEBO-CONTROLLED TRIAL
by: Cunnington, C, et al.
Published: (2010)

DDAVP Might Reduce the Risk of Preeclampsia in Pregnant Women with VWF Defi ciency
by: Alireza Hamidian Jahromi, et al.
Published: (2013-06-01)

DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings
by: Edoardo Fino, et al.
Published: (2023-12-01)

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia
by: Cezar Antonio Abreu de Souza, et al.
Published: (2018-03-01)

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia,
by: Cezar Antonio Abreu de Souza, et al.

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia
by: Cezar Antonio Abreu de Souza, et al.
Published: (2018-03-01)

Correction of tetrahydrobiopterin deficiency - Implications for dopa responsive dystonia and other inherited disorders of tetrahydrobiopterin metabolism
by: Heales, S, et al.
Published: (2005)

Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency
by: Mouna Feki Mnif, et al.
Published: (2013-01-01)

The Utility of Genomic Testing for Hyperphenylalaninemia
by: Elisabetta Anna Tendi, et al.
Published: (2022-02-01)

Cognitive functioning in mild hyperphenylalaninemia
by: Alicia de la Parra, et al.
Published: (2015-12-01)

Acute Inflammation Rapidly Increases Plasma Biopterins and Impairs Endothelial Function: A Novel Role of Plasma Tetrahydrobiopterin as a Marker of Acute Inflammation
by: Antonopoulos, A, et al.
Published: (2011)

Monitoring Treatment in Tetrahydrobiopterin Deficiency
by: Spada M., et al.
Published: (1991-02-01)

Phylogeny and Origin of Glucose-6-Phosphate Dehydrogenase (G6PD) Defi ciency Mutations in Indonesia
by: Maria Omega, et al.
Published: (2015-11-01)

Early Diagnosis of 6-Pyruvoyl-tetrahydropterin Synthase Deficiency
by: Shintaku Haruo
Published: (1994-02-01)

Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia
by: Fernando Andrade, et al.
Published: (2021-08-01)

Psychopathological Risk Assessment in Children with Hyperphenylalaninemia
by: Maria Cristina Risoleo, et al.
Published: (2022-10-01)

Clinical, genetic, and experimental research of hyperphenylalaninemia
by: Anqi Chen, et al.
Published: (2023-01-01)

Tetrahydrobiopterin deficiency increases susceptibility to atherosclerosis
by: Khoo, J, et al.
Published: (2005)

Tetrahydrobiopterin Deficiency: From Phenotype to Genotype
by: Blau Nenad, et al.
Published: (1993-02-01)

Vitamin D defi ciency and comorbid conditions in children 7-16 years of age: intelligent data analysis
by: O. A. Gromova, et al.
Published: (2018-05-01)

Critical role for tetrahydrobiopterin recycling by dihydrofolate reductase in regulation of endothelial nitric-oxide synthase coupling: relative importance of the de novo biopterin synthesis versus salvage pathways.
by: Crabtree, M, et al.
Published: (2009)

Tetrahydrobiopterin Supplementation: Elevation of Tissue Biopterin Levels Accompanied by a Relative Increase in Dihydrobiopterin in the Blood and the Role of Probenecid-Sensitive Uptake in Scavenging Dihydrobiopterin in the Liver and Kidney of Rats.
by: Akiko Ohashi, et al.
Published: (2016-01-01)

Polyunsaturated long-chain fatty acids in hyperphenylalaninemias
by: Sara Guillén-López, et al.
Published: (2014-07-01)

Prevalence of Neonatal Hyperphenylalaninemia in Yazd Province, Iran
by: Mahtab Ordooei, et al.
Published: (2015-05-01)

Tetrahydrobiopterin (Bh4) deficiencies: diagnosis and treatment
by: Mercedes Martínez-Pardo
Published: (2014-07-01)

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
by: Carla Carducci, et al.
Published: (2020-09-01)

Chronic oral tetrahydrobiopterin therapy in coronary artery disease elevates total biopterin levels but does not improve redox status or vascular function: a randomized placebo-controlled trial
by: Cunnington, C, et al.
Published: (2010)

Les Ciències de l'educació com ciències socials
by: Octavi Fullat i Genís
Published: (2003-04-01)