UB Paderborn / Katalog / Suche / in CDI

1 – 18 von 18

Sortiert nach

Long-Term Correction of Ornithine Transcarbamylase Deficiency by WPRE-Mediated Overexpression Using a Helper-Dependent Adenovirus

Molecular therapy, 2004-09, Vol.10 (3), p.492-499

2004

Volltextzugriff (PDF)

Reanalysis of Clinical Exome Sequencing Data

The New England journal of medicine, 2019-06, Vol.380 (25), p.2478-2480

2019

Volltextzugriff (PDF)

Monochorionic twin pregnancy from the perspective of the theory of complexity

Archivos argentinos de pediatría, 2024-08, Vol.122 (4), p.e202310097-e202310097

2024

Volltextzugriff (PDF)

Design of a Phase 3 study of AAV-mediated gene transfer of ornithine transcarbamylase (OTC) in patients with late-onset OTC deficiency

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108229, Article 108229

2024

Volltextzugriff (PDF)

Manejo inicial de la hiperamonemia aguda en pediatría

Archivos argentinos de pediatría, 2023-06, Vol.121 (3), p.11-11

2023

Volltextzugriff (PDF)

Ethical and Legal Implications of Genetic Testing in Androgen Insensitivity Syndrome

The Journal of pediatrics, 2007-04, Vol.150 (4), p.434-438

2007

Volltextzugriff (PDF)

Initial management of acute hyperammonemia in pediatrics

Archivos argentinos de pediatría, 2023-06, Vol.121 (3), p.e202202614-e202202614

2023

Volltextzugriff (PDF)

Errores congénitos del metabolismo y neuropsiquiatría: revisión bibliográfica a propósito de un caso

Psiquiatría biológica (Barcelona, Spain), 2021-09, Vol.28 (3), p.100336, Article 100336

2021

Volltextzugriff (PDF)

Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy

American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.776-785

2023

Volltextzugriff (PDF)

Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

The journal of clinical endocrinology and metabolism, 2014-11, Vol.99 (11), p.E2451-E2456

2014

Volltextzugriff (PDF)

Citrin deficiency, a perplexing global disorder

Molecular genetics and metabolism, 2009, Vol.96 (1), p.44-49

2009

Volltextzugriff (PDF)

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

Molecular genetics and metabolism, 2013-07, Vol.109 (3), p.260-268

2013

Volltextzugriff (PDF)

Clinical Consequences of Urea Cycle Enzyme Deficiencies and Potential Links to Arginine and Nitric Oxide Metabolism

The Journal of nutrition, 2004-10, Vol.134 (10), p.2775S-2782S

2004

Volltextzugriff (PDF)

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.315-321

2012

Volltextzugriff (PDF)

Clinical Consequences of Urea Cycle Enzyme Deficiencies and Potential Links to Arginine and Nitric Oxide Metabolism1,2

The Journal of nutrition, 2004-10, Vol.134 (10S), p.2775S

2004

Volltextzugriff (PDF)

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

Human genetics, 2005-10, Vol.117 (6), p.565-570

2005

Volltextzugriff (PDF)

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS1 mutation that abolishes the binding ability of molybdopterin synthase

Human genetics, 2005, Vol.117 (6), p.565-570

2005

Volltextzugriff (PDF)

Urea Cycle Disorders

Current treatment options in neurology, 2003-07, Vol.5 (4), p.309-319

2003

Volltextzugriff (PDF)

1 – 18 von 18

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(18)
Mit Volltextzugriff
(18)

Publikationsform

Artikel
(18)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Long-Term Correction of Ornithine Transcarbamylase Deficiency by WPRE-Mediated Overexpression Using a Helper-Dependent Adenovirus

Reanalysis of Clinical Exome Sequencing Data

Monochorionic twin pregnancy from the perspective of the theory of complexity

Design of a Phase 3 study of AAV-mediated gene transfer of ornithine transcarbamylase (OTC) in patients with late-onset OTC deficiency

Manejo inicial de la hiperamonemia aguda en pediatría

Ethical and Legal Implications of Genetic Testing in Androgen Insensitivity Syndrome

Initial management of acute hyperammonemia in pediatrics

Errores congénitos del metabolismo y neuropsiquiatría: revisión bibliográfica a propósito de un caso

Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy

Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

Citrin deficiency, a perplexing global disorder

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

Clinical Consequences of Urea Cycle Enzyme Deficiencies and Potential Links to Arginine and Nitric Oxide Metabolism

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

Clinical Consequences of Urea Cycle Enzyme Deficiencies and Potential Links to Arginine and Nitric Oxide Metabolism1,2

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS1 mutation that abolishes the binding ability of molybdopterin synthase

Urea Cycle Disorders

Suchergebnisse filtern