Mutation Analysis of the Phenylalanine Hydroxylase Gene and Its Clinical Implications in Two Japanese Patients With Non-Phenylketonuria Hyperphenylalaninemia

Journal of Human Genetics - United Kingdom
doi 10.1007/s100380050079
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Springer Science and Business Media LLC

Related search

Genetic Analysis of Two Japanese Patients With Non-Classical 21-Hydroxylase Deficiency

Internal Medicine
Internal MedicineMedicine
2009English

Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1

Pediatric Research
Child HealthPediatricsPerinatology
1997English

Analysis of Steroid 21-Hydroxylase Gene in Five Unrelated Japanese Patients With 21-Hydroxylase Deficiency

Endocrinologia Japonica
1987English

Tetrahydrobiopterin Responsiveness of Patients With Phenylalanine Hydroxylase Deficiency

Jornal de Pediatria
Child HealthPediatricsPerinatology
2011English

Expression of Phenylalanine Hydroxylase (PAH) in Erythrogenic Bone Marrow Does Not Correct Hyperphenylalaninemia inPahenu2 Mice

Journal of Gene Medicine
Molecular MedicineDrug DiscoveryGeneticsMolecular Biology
2003English

Therapeutic Implication of L-Phenylalanine Aggregation Mechanism and Its Modulation by D-Phenylalanine in Phenylketonuria

Scientific Reports
Multidisciplinary
2014English

Maternal Phenylketonuria and Hyperphenylalaninemia. A Prospective Study

Pediatric Research
Child HealthPediatricsPerinatology
1974English

Pharmacokinetics of Orally Administered Tetrahydrobiopterin in Patients With Phenylalanine Hydroxylase Deficiency

Journal of Inherited Metabolic Disease
Genetics
2006English

Analysis of Clinical Characteristics of Breast Cancer Patients With the Japanese Founder Mutation BRCA1 L63X

Oncotarget
Oncology
2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy