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31 Einträge gefunden

Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria:literature review and expert opinion
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency
2021 - Forschungsinformationssystem des UKE - frei zugänglich
A prenatally disrupted airway epithelium orchestrates the fetal origin of asthma in mice
2020 - Forschungsinformationssystem des UKE
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26
2019 - Forschungsinformationssystem des UKE
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age
2018 - Forschungsinformationssystem des UKE - frei zugänglich
Inborn errors of metabolism and the human interactome: a systems medicine approach
2018 - Forschungsinformationssystem des UKE
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism
2018 - Forschungsinformationssystem des UKE
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
2017 - Forschungsinformationssystem des UKE - frei zugänglich
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture
2017 - Forschungsinformationssystem des UKE
Homooligomerization of ABCA3 and its functional significance
2016 - Forschungsinformationssystem des UKE
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
2016 - Forschungsinformationssystem des UKE - frei zugänglich
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results: survey results
2016 - Forschungsinformationssystem des UKE
Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity
2015 - Forschungsinformationssystem des UKE
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
2015 - Forschungsinformationssystem des UKE
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria
2015 - Forschungsinformationssystem des UKE
Management of adult patients with phenylketonuria: survey results from 24 countries
2015 - Forschungsinformationssystem des UKE

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Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria:literature review and expert opinion

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1

Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers

Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency

A prenatally disrupted airway epithelium orchestrates the fetal origin of asthma in mice

Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26

Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age

Inborn errors of metabolism and the human interactome: a systems medicine approach

Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture

Homooligomerization of ABCA3 and its functional significance

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results: survey results

Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

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

Management of adult patients with phenylketonuria: survey results from 24 countries