UB Paderborn / Katalog / Suche / in CDI

Infantile Refsum disease: an inherited peroxisomal disorder: comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

European journal of pediatrics, 1987-09, Vol.146 (5), p.477-483

1987

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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

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

2016

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NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

Journal of inherited metabolic disease, 2008-02, Vol.31 (1), p.81-87

2008

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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Journal of Inherited Metabolic Disease, 2017-01, Vol.40 (1), p.49-74

2017

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Variability of Bacterial Biofilms of the “Tina” Wood Vats Used in the Ragusano Cheese-Making Process

Applied and Environmental Microbiology, 2007-11, Vol.73 (21), p.6980-6987

2007

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Impaired aerobic capacity and premature fatigue preceding muscle weakness in the skeletal muscle Tfam-knockout mouse model

Disease models & mechanisms, 2021-09, Vol.14 (9)

2021

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New insights in the relation between electron trap generation and the statistical properties of oxide breakdown

IEEE transactions on electron devices, 1998-04, Vol.45 (4), p.904-911

1998

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Methylmalonic and propionic acidaemias: Management and outcome

Journal of inherited metabolic disease, 2005-05, Vol.28 (3), p.415-423

2005

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Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data

Journal of inherited metabolic disease, 2014, Vol.37 (1), p.137-139

2014

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Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.507-516

2011

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A practical framework for implementing and evaluating integrated management of marine activities

Ocean & coastal management, 2019-07, Vol.177, p.127-138

2019

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The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

Journal of neurology, neurosurgery and psychiatry, 2008-06, Vol.79 (6), p.725-728

2008

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Siloed Federated Learning for Multi-centric Histopathology Datasets

Domain Adaptation and Representation Transfer, and Distributed and Collaborative Learning, p.129-139

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ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death

Journal of molecular medicine (Berlin, Germany), 2022-05, Vol.100 (5), p.797-813

2022

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Correction to: ASK1 is a novel molecular target for preventing aminoglycoside‑induced hair cell death

Journal of molecular medicine (Berlin, Germany), 2022-05, Vol.100 (5), p.815-815

2022

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Reaction of bone nanostructure to a biodegrading Magnesium WZ21 implant – A scanning small-angle X-ray scattering time study

Acta biomaterialia, 2016-02, Vol.31, p.448-457

2016

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Nature genetics, 2001-09, Vol.29 (1), p.57-60

2001

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Predictive value of skin prick tests using recombinant allergens for diagnosis of peanut allergy

Journal of Allergy and Clinical Immunology, 2006-07, Vol.118 (1), p.250-256

2006

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The role of voluntary commitments in realizing the promise of the Blue Economy

Global environmental change, 2021-11, Vol.71, p.102372, Article 102372

2021

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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.415-422

2017

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Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.288-298

2006

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1041-1057

2015

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The entomopathogenic bacterial endosymbionts Xenorhabdus and Photorhabdus: convergent lifestyles from divergent genomes

PloS one, 2011-11, Vol.6 (11), p.e27909-e27909

2011

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1059-1074

2015

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Matching degradation of threshold voltage and gate voltage of NMOSFET after Hot Carrier Injection stress

Microelectronics and reliability, 2011-09, Vol.51 (9-11), p.1561-1563

2011

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Infantile Refsum disease: an inherited peroxisomal disorder: comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Variability of Bacterial Biofilms of the “Tina” Wood Vats Used in the Ragusano Cheese-Making Process

Impaired aerobic capacity and premature fatigue preceding muscle weakness in the skeletal muscle Tfam-knockout mouse model

New insights in the relation between electron trap generation and the statistical properties of oxide breakdown

Methylmalonic and propionic acidaemias: Management and outcome

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

A practical framework for implementing and evaluating integrated management of marine activities

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

Siloed Federated Learning for Multi-centric Histopathology Datasets

ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death

Correction to: ASK1 is a novel molecular target for preventing aminoglycoside‑induced hair cell death

Reaction of bone nanostructure to a biodegrading Magnesium WZ21 implant – A scanning small-angle X-ray scattering time study

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Predictive value of skin prick tests using recombinant allergens for diagnosis of peanut allergy

The role of voluntary commitments in realizing the promise of the Blue Economy

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

The entomopathogenic bacterial endosymbionts Xenorhabdus and Photorhabdus: convergent lifestyles from divergent genomes

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Matching degradation of threshold voltage and gate voltage of NMOSFET after Hot Carrier Injection stress

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