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

Scientific reports, 2021-10, Vol.11 (1), p.20618-20618, Article 20618

2021

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One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects

Transplantation, 2009-03, Vol.87 (5), p.636-641

2009

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Rapid steroid hormone quantification for congenital adrenal hyperplasia (CAH) in dried blood spots using UPLC liquid chromatography–tandem mass spectrometry

Steroids, 2011-12, Vol.76 (13), p.1437-1442

2011

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Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

Orphanet journal of rare diseases, 2017-12, Vol.12 (1), p.187-187, Article 187

2017

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Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro

Bioscience reports, 2017-04, Vol.37 (2)

2017

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Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)

Genes, 2020-07, Vol.11 (7), p.774

2020

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Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation

JIMD reports, 2022-07, Vol.63 (4), p.371-378

2022

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Mitochondrial DNA Depletion and Respiratory Chain Activity in Primary Human Subcutaneous Adipocytes Treated with Nucleoside Analogue Reverse Transcriptase Inhibitors

Antimicrobial Agents and Chemotherapy, 2010-01, Vol.54 (1), p.280-287

2010

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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

JIMD reports, 2020-03, Vol.52 (1), p.3-10

2020

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

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

Ketogenic Diet: Impact on Cellular Lipids in Hippocampal Murine Neurons

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

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

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

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

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

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

One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects

Rapid steroid hormone quantification for congenital adrenal hyperplasia (CAH) in dried blood spots using UPLC liquid chromatography–tandem mass spectrometry

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro

Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)

Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation

Mitochondrial DNA Depletion and Respiratory Chain Activity in Primary Human Subcutaneous Adipocytes Treated with Nucleoside Analogue Reverse Transcriptase Inhibitors

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

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

Pharmacotherapy of inborn errors of metabolism illustrating challenges in orphan diseases

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

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

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

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

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

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

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