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...

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

Orphanet journal of rare diseases, 2018-12, Vol.13 (1), p.219-219, Article 219

2018

Volltextzugriff (PDF)

Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene

Human mutation, 2018-04, Vol.39 (4), p.527-536

2018

Volltextzugriff (PDF)

Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ

The Journal of pediatrics, 2013-02, Vol.162 (2), p.324-329.e1

2013

Volltextzugriff (PDF)

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Genetics in medicine, 2017-12, Vol.19 (12), p.1317-1322

2017

Volltextzugriff (PDF)

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Nature genetics, 2017-04, Vol.49 (4), p.613-617

2017

Volltextzugriff (PDF)

Propionyl-CoA carboxylase – A review

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.145-152

2017

Volltextzugriff (PDF)

Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.500-507

2021

Volltextzugriff (PDF)

Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl- l -glutamate

The Journal of pediatrics, 2014-08, Vol.165 (2), p.401-403.e3

2014

Volltextzugriff (PDF)

Progress and challenges in development of new therapies for urea cycle disorders

Human molecular genetics, 2019-10, Vol.28 (R1), p.R42-R48

2019

Volltextzugriff (PDF)

The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification

Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100598-100598, Article 100598

2020

Volltextzugriff (PDF)

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy

Human mutation, 2011-10, Vol.32 (10), p.1153-1160

2011

Volltextzugriff (PDF)

A new Capillary Zone Electrophoresis method for the screening of Congenital Disorders of Glycosylation (CDG)

Clinica chimica acta, 2010-01, Vol.411 (1), p.64-66

2010

Volltextzugriff (PDF)

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment

Application of clinical genetics, 2011-01, Vol.4 (default), p.127-135

2011

Volltextzugriff (PDF)

Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder

Pediatric neurology, 2024-07, Vol.156, p.178-181

2024

Volltextzugriff (PDF)

Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

Molecular genetics and metabolism, 2021-09, Vol.134 (1-2), p.37-42

2021

Volltextzugriff (PDF)

A pandemic will not stop metabolic innovation

Molecular genetics and metabolism, 2020-08, Vol.130 (4), p.225-226

2020

Volltextzugriff (PDF)

The functional impact of 1,570 individual amino acid substitutions in human OTC

American journal of human genetics, 2023-05, Vol.110 (5), p.863-879

2023

Volltextzugriff (PDF)

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises

Pediatric neurology, 2024-10, Vol.159, p.48-55

2024

Volltextzugriff (PDF)

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1750-1753

2020

Volltextzugriff (PDF)

“Mild” hyperphenylalaninemia? A case series of seven treated patients following newborn screening

Molecular genetics and metabolism, 2017-12, Vol.122 (4), p.153-155

2017

Volltextzugriff (PDF)

MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency

Pediatric neurology, 2011-07, Vol.45 (1), p.57-59

2011

Volltextzugriff (PDF)

Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient

Liver transplantation, 2022-12, Vol.28 (12), p.1947-1950

2022

Volltextzugriff (PDF)

Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes

Molecular genetics and metabolism, 2017-03, Vol.120 (3), p.198-206

2017

Volltextzugriff (PDF)

Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature

American journal of medical genetics. Part A, 2008-12, Vol.146A (23), p.3062-3069

2008

Volltextzugriff (PDF)

N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia

Pediatrics (Evanston), 2010-07, Vol.126 (1), p.e208-e214

2010

Volltextzugriff (PDF)

1 – 25 von 81

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(78)
Mit Volltextzugriff
(73)

Publikationsform

Sprache

Englisch
(81)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene

Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Propionyl-CoA carboxylase – A review

Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis

Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl- l -glutamate

Progress and challenges in development of new therapies for urea cycle disorders

The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy

A new Capillary Zone Electrophoresis method for the screening of Congenital Disorders of Glycosylation (CDG)

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment

Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder

Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

A pandemic will not stop metabolic innovation

The functional impact of 1,570 individual amino acid substitutions in human OTC

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails

“Mild” hyperphenylalaninemia? A case series of seven treated patients following newborn screening

MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency

Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient

Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes

Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature

N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia

Suchergebnisse filtern