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Mechanism of Action of Ketogenic Diet Treatment: Impact of Decanoic Acid and Beta-Hydroxybutyrate on Sirtuins and Energy Metabolism in Hippocampal Murine Neurons

Nutrients, 2020-08, Vol.12 (8), p.2379

2020

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From common to rare: repurposing of bempedoic acid for the treatment of glycogen storage disease type 1

Genes & nutrition, 2023-09, Vol.18 (1), p.15-15, Article 15

Das, Anibh M.

2023

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Glycogen storage disease type III: modified Atkins diet improves myopathy

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.196-196, Article 196

2014

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Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter

Monatsschrift Kinderheilkunde, 2024-07, Vol.172 (7), p.587-594

2024

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Simplification of Dietary Treatment in Pharmacoresistant Epilepsy: Impact of C8 and C10 Fatty Acids on Sirtuins of Neuronal Cells In Vitro

Nutrients, 2024-06, Vol.16 (11), p.1678

2024

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Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

Orphanet journal of rare diseases, 2011-08, Vol.6 (1), p.55-55, Article 55

2011

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Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

Annals of neurology, 2018-05, Vol.83 (5), p.970-979

2018

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Ketogenic Diet: Impact on Cellular Lipids in Hippocampal Murine Neurons

Nutrients, 2020-12, Vol.12 (12), p.3870

2020

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Pharmacotherapy of inborn errors of metabolism illustrating challenges in orphan diseases

Journal of pharmacological and toxicological methods, 2016-09, Vol.81, p.9-14

Das, Anibh M.

2016

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Influences of Hypoxia Exercise on Whole-Body Insulin Sensitivity and Oxidative Metabolism in Older Individuals

The journal of clinical endocrinology and metabolism, 2019-11, Vol.104 (11), p.5238-5248

2019

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LMS-Based Pediatric Reference Values for Parameters of Phosphate Homeostasis in the HARP Cohort

The journal of clinical endocrinology and metabolism, 2024-02, Vol.109 (3), p.668-679

2024

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Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring

Developmental medicine and child neurology, 2014-10, Vol.56 (10), p.1021-1024

2014

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LMS-based continuous pediatric reference values for soluble receptor activator of nuclear factor kappa B ligand (sRANKL) and osteoprotegerin (OPG) in the HARP cohort

Osteoporosis international, 2024-03, Vol.35 (3), p.533-542

2024

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Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization

Scientific reports, 2019-03, Vol.9 (1), p.5292, Article 5292

2019

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Alterations of sirtuins in mitochondrial cytochrome c-oxidase deficiency

PloS one, 2017-10, Vol.12 (10), p.e0186517-e0186517

2017

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Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability

International journal of molecular sciences, 2020-03, Vol.21 (6), p.2101

2020

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Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

Clinical pharmacology and therapeutics, 2020-08, Vol.108 (2), p.326-337

2020

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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Scientific reports, 2021-09, Vol.11 (1), p.19300-19300, Article 19300

2021

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Neurological Manifestations of Mycoplasma pneumoniae Infection in Hospitalized Children and Their Long-Term Follow-Up

Neuropediatrics, 2016-10, Vol.47 (5), p.308

2016

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Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation

Glycobiology (Oxford), 2022-04, Vol.32 (5), p.380-390

2022

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Impact of high glucose and transforming growth factor– β on bioenergetic profiles in podocytes

Metabolism, clinical and experimental, 2012-08, Vol.61 (8), p.1073-1086

2012

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A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics

Journal of neurology, 2022-09, Vol.269 (9), p.4863-4871

2022

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Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening

Advances in experimental medicine and biology, 2017, Vol.959, p.125-132

2017

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Galactokinase deficiency: lessons from the GalNet registry

Genetics in medicine, 2021-01, Vol.23 (1), p.202-210

2021

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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

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Mechanism of Action of Ketogenic Diet Treatment: Impact of Decanoic Acid and Beta-Hydroxybutyrate on Sirtuins and Energy Metabolism in Hippocampal Murine Neurons

From common to rare: repurposing of bempedoic acid for the treatment of glycogen storage disease type 1

Glycogen storage disease type III: modified Atkins diet improves myopathy

Differenzierte Herangehensweise und Testung seltener genetischer Erkrankungen im Kindes- und Jugendalter

Simplification of Dietary Treatment in Pharmacoresistant Epilepsy: Impact of C8 and C10 Fatty Acids on Sirtuins of Neuronal Cells In Vitro

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

Ketogenic Diet: Impact on Cellular Lipids in Hippocampal Murine Neurons

Pharmacotherapy of inborn errors of metabolism illustrating challenges in orphan diseases

Influences of Hypoxia Exercise on Whole-Body Insulin Sensitivity and Oxidative Metabolism in Older Individuals

LMS-Based Pediatric Reference Values for Parameters of Phosphate Homeostasis in the HARP Cohort

Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring

LMS-based continuous pediatric reference values for soluble receptor activator of nuclear factor kappa B ligand (sRANKL) and osteoprotegerin (OPG) in the HARP cohort

Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization

Alterations of sirtuins in mitochondrial cytochrome c-oxidase deficiency

Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability

Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Neurological Manifestations of Mycoplasma pneumoniae Infection in Hospitalized Children and Their Long-Term Follow-Up

Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation

Impact of high glucose and transforming growth factor– β on bioenergetic profiles in podocytes

A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics

Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening

Galactokinase deficiency: lessons from the GalNet registry

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

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