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...

The impact of rifaximin on inflammation and metabolism in alcoholic hepatitis: A randomized clinical trial

PloS one, 2022-03, Vol.17 (3), p.e0264278-e0264278

2022

Volltextzugriff (PDF)

Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

PloS one, 2023-06, Vol.18 (6), p.e0287268-e0287268

2023

Volltextzugriff (PDF)

Newborn screening for adrenoleukodystrophy: International experiences and challenges

Molecular genetics and metabolism, 2023-12, Vol.140 (4), p.107734-107734, Article 107734

2023

Volltextzugriff (PDF)

Splenomegaly - Diagnostic validity, work-up, and underlying causes

PloS one, 2017-11, Vol.12 (11), p.e0186674-e0186674

2017

Volltextzugriff (PDF)

Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes

American journal of physiology: Gastrointestinal and liver physiology, 2018-01, Vol.314 (1), p.G91-G96

2018

Volltextzugriff (PDF)

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients

Journal of medical genetics, 2013-01, Vol.50 (1), p.21-24

2013

Volltextzugriff (PDF)

Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe Islands

JIMD reports, 2023-11, Vol.64 (6), p.453-459

2023

Volltextzugriff (PDF)

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Molecular genetics and metabolism, 2012-12, Vol.107 (4), p.705-710

2012

Volltextzugriff (PDF)

Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study

The lancet. Diabetes & endocrinology, 2021-07, Vol.9 (7), p.427-435

2021

Volltextzugriff (PDF)

Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

Nephrology, dialysis, transplantation, 2019-09, Vol.34 (9), p.1525-1533

2019

Volltextzugriff (PDF)

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.271-271, Article 271

2020

Volltextzugriff (PDF)

Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

Molecular genetics and metabolism, 2024-08, Vol.142 (4), p.108519, Article 108519

2024

Volltextzugriff (PDF)

Increased risk of sudden death in untreated primary carnitine deficiency

Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.290-296

2020

Volltextzugriff (PDF)

Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

Advances in therapy, 2019-07, Vol.36 (7), p.1786-1811

2019

Volltextzugriff (PDF)

Correction to: Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

Advances in therapy, 2024-04, Vol.41 (4), p.1765-1769

2024

Volltextzugriff (PDF)

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency

Journal of inherited metabolic disease, 2024-03, Vol.47 (2), p.220-229

2024

Volltextzugriff (PDF)

No effect of triheptanoin in patients with phosphofructokinase deficiency

Neuromuscular disorders : NMD, 2022-04, Vol.32 (4), p.295-304

2022

Volltextzugriff (PDF)

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

Molecular vision, 2019, Vol.25 (1), p.1-11

2019

Volltextzugriff (PDF)

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Genetics in medicine, 2016-10, Vol.18 (10), p.991-1000

2016

Volltextzugriff (PDF)

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

Scandinavian journal of clinical and laboratory investigation, 2017-11, Vol.77 (8), p.617-621

2017

Volltextzugriff (PDF)

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

Journal of nutrition and metabolism, 2018-01, Vol.2018 (2018), p.1-11

2018

Volltextzugriff (PDF)

Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.366-379

2014

Volltextzugriff (PDF)

The impact of consanguinity on the frequency of inborn errors of metabolism

Molecular genetics and metabolism reports, 2018-06, Vol.15, p.6-10

2018

Volltextzugriff (PDF)

1 – 25 von 443

Suche als RSS-Feed

Aktive Filter

ThemaPediatrics

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(370)
Mit Volltextzugriff
(347)

Publikationsform

3 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(373)
Deutsch
(41)
Dänisch
(25)
Latein
(2)
Französisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(5)

Menü

Weitere Dienste

Einstellungen

The impact of rifaximin on inflammation and metabolism in alcoholic hepatitis: A randomized clinical trial

Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

Newborn screening for adrenoleukodystrophy: International experiences and challenges

Splenomegaly - Diagnostic validity, work-up, and underlying causes

Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients

Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe Islands

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III

Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study

Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

Increased risk of sudden death in untreated primary carnitine deficiency

Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

Correction to: Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency

No effect of triheptanoin in patients with phosphofructokinase deficiency

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

The impact of consanguinity on the frequency of inborn errors of metabolism

Aktive Filter

Suchergebnisse filtern