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...

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation

Cells (Basel, Switzerland), 2021-09, Vol.10 (9), p.2498

2021

Volltextzugriff (PDF)

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100543-100543, Article 100543

2019

Volltextzugriff (PDF)

Improving diagnosis of mitochondrial fatty-acid oxidation disorders

European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.265-272

2023

Volltextzugriff (PDF)

Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry

Kidney international reports, 2022-02, Vol.7 (2), p.210-220

2022

Volltextzugriff (PDF)

Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges

Journal of inherited metabolic disease, 2023-09, Vol.46 (5), p.848-873

2023

Volltextzugriff (PDF)

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

The New England journal of medicine, 2016-02, Vol.374 (8), p.795-797

2016

Volltextzugriff (PDF)

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

Human mutation, 2019-10, Vol.40 (10), p.1826-1840

2019

Volltextzugriff (PDF)

Imeglimin normalizes glucose tolerance and insulin sensitivity and improves mitochondrial function in liver of a high-fat, high-sucrose diet mice model

Diabetes (New York, N.Y.), 2015-06, Vol.64 (6), p.2254-2264

2015

Volltextzugriff (PDF)

Isolated kidney transplantation under lumasiran therapy in primary hyperoxaluria type 1: a report of five cases

Nephrology, dialysis, transplantation, 2023-02, Vol.38 (2), p.517-521

2023

Volltextzugriff (PDF)

Nephrocalcinosis can disappear in infants receiving early lumasiran therapy

Pediatric nephrology (Berlin, West), 2024-07, Vol.39 (7), p.2079-2082

2024

Volltextzugriff (PDF)

Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria

Pediatric nephrology (Berlin, West), 2024-08

2024

Volltextzugriff (PDF)

Mevalonate kinase deficiency: a survey of 50 patients

Pediatrics (Evanston), 2011-07, Vol.128 (1), p.e152-e159

2011

Volltextzugriff (PDF)

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series

Journal of inherited metabolic disease, 2024-03, Vol.47 (2), p.255-269

2024

Volltextzugriff (PDF)

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

Journal of neurology, neurosurgery and psychiatry, 2021-01, Vol.92 (1), p.27-35

2021

Volltextzugriff (PDF)

Severe transient myopathy in a patient with progressive multiple sclerosis and high-dose biotin

Neurology, 2019-05, Vol.92 (22), p.1060-1062

2019

Volltextzugriff (PDF)

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

Nephrology, dialysis, transplantation, 2012-05, Vol.27 (5), p.1729-1736

2012

Volltextzugriff (PDF)

Plasma acetyl-l-carnitine and l-carnitine in major depressive episodes: a case–control study before and after treatment

Psychological medicine, 2023-04, Vol.53 (6), p.2307-2316

2023

Volltextzugriff (PDF)

DHA at nutritional doses restores insulin sensitivity in skeletal muscle by preventing lipotoxicity and inflammation

The Journal of nutritional biochemistry, 2015-09, Vol.26 (9), p.949-959

2015

Volltextzugriff (PDF)

The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants

Pediatric nephrology (Berlin, West), 2022-04, Vol.37 (4), p.907-911

2022

Volltextzugriff (PDF)

Metabolomic profiles of 38 acylcarnitines in major depressive episodes before and after treatment

Psychological medicine, 2024-01, Vol.54 (2), p.289-298

2024

Volltextzugriff (PDF)

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases

Molecular genetics and metabolism, 2024-09, Vol.143 (1-2), p.108579, Article 108579

2024

Volltextzugriff (PDF)

Plasma oxalate: comparison of methodologies

Urolithiasis, 2020-12, Vol.48 (6), p.473-480

2020

Volltextzugriff (PDF)

Subacute myopathy in a mature patient due to multiple acyl‐coenzyme a dehydrogenase deficiency

Muscle & nerve, 2011-03, Vol.43 (3), p.444-446

2011

Volltextzugriff (PDF)

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy

International journal of molecular sciences, 2020-05, Vol.21 (9), p.3109

2020

Volltextzugriff (PDF)

Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein

Biochimica et biophysica acta. Molecular basis of disease, 2017-12, Vol.1863 (12), p.3294-3302

2017

Volltextzugriff (PDF)

1 – 25 von 142

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(130)
Mit Volltextzugriff
(125)

Publikationsform

Sprache

Englisch
(129)
Französisch
(15)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

Improving diagnosis of mitochondrial fatty-acid oxidation disorders

Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry

Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

Imeglimin normalizes glucose tolerance and insulin sensitivity and improves mitochondrial function in liver of a high-fat, high-sucrose diet mice model

Isolated kidney transplantation under lumasiran therapy in primary hyperoxaluria type 1: a report of five cases

Nephrocalcinosis can disappear in infants receiving early lumasiran therapy

Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria

Mevalonate kinase deficiency: a survey of 50 patients

Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series

Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies

Severe transient myopathy in a patient with progressive multiple sclerosis and high-dose biotin

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

Plasma acetyl-l-carnitine and l-carnitine in major depressive episodes: a case–control study before and after treatment

DHA at nutritional doses restores insulin sensitivity in skeletal muscle by preventing lipotoxicity and inflammation

The effect of lumasiran therapy for primary hyperoxaluria type 1 in small infants

Metabolomic profiles of 38 acylcarnitines in major depressive episodes before and after treatment

Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases

Plasma oxalate: comparison of methodologies

Subacute myopathy in a mature patient due to multiple acyl‐coenzyme a dehydrogenase deficiency

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy

Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein

Suchergebnisse filtern