UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study

Pediatrics (Evanston), 2013-06, Vol.131 (6), p.e1881-e1888

2013

Volltextzugriff (PDF)

A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses

Frontiers in psychiatry, 2018-12, Vol.9, p.636

2018

Volltextzugriff (PDF)

Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample

Children (Basel), 2023-02, Vol.10 (2), p.412

2023

Volltextzugriff (PDF)

Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios

Biomedicines, 2023-12, Vol.11 (12), p.3247

2023

Volltextzugriff (PDF)

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl

Global medical genetics, 2022-09, Vol.9 (3), p.247-251

2022

Volltextzugriff (PDF)

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

International journal of neonatal screening, 2020-07, Vol.6 (3), p.1

2020

Volltextzugriff (PDF)

Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing

Biomedicines, 2023-07, Vol.11 (7), p.1899

2023

Volltextzugriff (PDF)

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

International journal of neonatal screening, 2018-06, Vol.4 (2), p.12-12

2018

Volltextzugriff (PDF)

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

American journal of human genetics, 1998-07, Vol.63 (1), p.71-79

1998

Volltextzugriff (PDF)

New ratio as a useful marker for early diagnosis of proximal urea cycle disorders

Clinica chimica acta, 2021-09, Vol.520, p.154-159

2021

Volltextzugriff (PDF)

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

Experimental and Molecular Medicine, 2010, 42(2), , pp.81-86

2010

Volltextzugriff (PDF)

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

Clinical epigenetics, 2021-07, Vol.13 (1), p.137-137, Article 137

2021

Volltextzugriff (PDF)

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

International journal of neonatal screening, 2022-08, Vol.8 (3), p.47

2022

Volltextzugriff (PDF)

Autism and phenylketonuria

Journal of autism and developmental disorders, 2003-04, Vol.33 (2), p.201-204

2003

Volltextzugriff (PDF)

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

Human mutation, 2010-03, Vol.31 (3), p.279-283

2010

Volltextzugriff (PDF)

Clinical manifestations and management of four children with Pearson syndrome

American journal of medical genetics. Part A, 2011-12, Vol.155 (12), p.3063-3066

2011

Volltextzugriff (PDF)

Hyperprolinemia Type IA: Benign Metabolic Anomaly or a Trigger for Brain Dysfunction?

Journal of inborn errors of metabolism and screening, 2017, Vol.5, p.232640981770777

2017

Volltextzugriff (PDF)

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period

European journal of obstetrics & gynecology and reproductive biology, 2010-04, Vol.149 (2), p.228-229

2010

Volltextzugriff (PDF)

Pharmacokinetics of Sapropterin in Patients with Phenylketonuria

Clinical pharmacokinetics, 2008-01, Vol.47 (12), p.817-825

2008

Volltextzugriff (PDF)

Se ha crisi e MaNGIE male pensa a mitocondiopatia

Medico e Bambino Pagine elettroniche, 2024-05, Vol.27 (5), p.96-97

2024

Volltextzugriff (PDF)

Hyperprolinemia Type IA

Journal of inborn errors of metabolism and screening, 2017-05, Vol.5

2017

Volltextzugriff (PDF)

Dietary control of phenylketonuria

The Lancet (British edition), 2002-12, Vol.360 (9350), p.2075-2076

2002

Volltextzugriff (PDF)

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl

Global medical genetics, 2022, Vol.9 (3), p.247-251

2022

Volltextzugriff (PDF)

PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis

Molecular genetics and metabolism, 2001-11, Vol.74 (3), p.353-361

2001

Volltextzugriff (PDF)

Nutritional and racial determinants of the increase in plasma homocysteine levels after methionine loading

Current therapeutic research, 2002-07, Vol.63 (7), p.459-473

2002

Volltextzugriff (PDF)

1 – 25 von 50

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(43)
Mit Volltextzugriff
(47)

Publikationsform

Artikel
(47)
Berichte
(3)

Sprache

Englisch
(48)
Italienisch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study

A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses

Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample

Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency

Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

New ratio as a useful marker for early diagnosis of proximal urea cycle disorders

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

Autism and phenylketonuria

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

Clinical manifestations and management of four children with Pearson syndrome

Hyperprolinemia Type IA: Benign Metabolic Anomaly or a Trigger for Brain Dysfunction?

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period

Pharmacokinetics of Sapropterin in Patients with Phenylketonuria

Se ha crisi e MaNGIE male pensa a mitocondiopatia

Hyperprolinemia Type IA

Dietary control of phenylketonuria

Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl

PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis

Nutritional and racial determinants of the increase in plasma homocysteine levels after methionine loading

Suchergebnisse filtern