Risk of Developing Insulin Resistance in Adult Subjects with Phenylketonuria: Machine Learning Model Reveals an Association with Phenylalanine Concentrations in Dried Blood Spots (original) (raw)

Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis

Kay Noel

Molecular Genetics and Metabolism, 2007

View PDFchevron_right

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records

Tiina Kahre

Molecular genetics and metabolism reports, 2019

View PDFchevron_right

Variations in genotype-phenotype correlations in phenylketonuria patients

Cleusa Fonseca

2010

View PDFchevron_right

Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome

Colleen Azen

Pediatrics, 2003

View PDFchevron_right

Metabolic Control and Body Composition of Children and Adolescents with Phenylketonuria

Tatiana Amorim

Revista Paulista de Pediatria, 2021

View PDFchevron_right

Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects

Jeffrey Bidwell

Journal of Medical Genetics, 1995

View PDFchevron_right

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria

Belen Perez

European journal of human genetics : EJHG, 2014

View PDFchevron_right

Maternal Phenylketonuria Collaborative Study (MPKUCS)—The 'outliers

Colleen Azen

Journal of Inherited Metabolic Disease, 2000

View PDFchevron_right

How practical are recommendations for dietary control in phenylketonuria?

Anita Macdonald

The Lancet, 2002

View PDFchevron_right

Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations

Rosa Ribeiro

Nutrients, 2021

View PDFchevron_right

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria

Johannes Zschocke

Journal of medical genetics, 2015

View PDFchevron_right

Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods

Chunli Yu

Genetics in Medicine, 2007

View PDFchevron_right

Adults with untreated phenylketonuria: out of sight, out of mind

Glynis Murphy

The British Journal of Psychiatry, 2008

View PDFchevron_right

Genetic etiology and clinical challenges of phenylketonuria

Ezzeldin N. Elhawary

Human Genomics

View PDFchevron_right

Blood phenylalanine control in phenylketonuria: a survey of 10 European centres

Anita Macdonald

European Journal of Clinical Nutrition, 2011

View PDFchevron_right

The Genetic Landscape and Epidemiology of Phenylketonuria

Sven Garbade

The American Journal of Human Genetics, 2020

View PDFchevron_right

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria

Maria Ruiz

Journal of human genetics, 2016

View PDFchevron_right

Metabolic syndrome in children and adolescents with phenylketonuria

Marcos Aguiar

Jornal de pediatria

View PDFchevron_right

Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes

Denise Ney

Molecular Genetics and Metabolism, 2009

View PDFchevron_right

Carbohydrate status in patients with phenylketonuria

Patricia Correcher

Orphanet Journal of Rare Diseases

View PDFchevron_right

High prevalence of overweight and obesity in females with phenylketonuria

Douglas Kerr

Molecular Genetics and Metabolism, 2012

View PDFchevron_right

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

Ida Schwartz

Molecular Genetics and Metabolism Reports, 2016

View PDFchevron_right

Update on phenylketonuria

Christian Hendriksz

Current Paediatrics, 2004

View PDFchevron_right

Phenylketonuria: questioning the gospel

William Hanley

Expert Review of Endocrinology & Metabolism, 2007

View PDFchevron_right

Prevalence of Overweight and Obesity in Children Diagnosed with Phenylketonuria

Aya Elsebaey

Journal of Comprehensive Pediatrics, 2023

View PDFchevron_right

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan

shivshankar timmanpyati

Scientific Reports, 2020

View PDFchevron_right