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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.80-80, Article 80

2018

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Hepatocellular transport and gastrointestinal absorption of lanthanum in chronic renal failure

Kidney international, 2009-02, Vol.75 (4), p.389-398

2009

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Human peroxisomal disorders

Microscopy research and technique, 2003-06, Vol.61 (2), p.203-223

2003

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Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator

The Journal of cell biology, 2005-04, Vol.169 (1), p.93-104

2005

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Chronic interstitial nephritis in agricultural communities is a toxin-induced proximal tubular nephropathy

Kidney international, 2020-02, Vol.97 (2), p.350-369

2020

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Migrations are of all times

European Journal of Human Genetics, 2010-02, Vol.18 (2), p.262-263

Roels, Frank

2010

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Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials

Advances in experimental medicine and biology, 2003, Vol.544, p.369

2003

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MO063CHRONIC INTERSTITIAL NEPHRITIS IN AGRICULTURAL COMMUNITIES IS A TOXIN-INDUCED PROXIMAL TUBULAR NEPHROPATHY

Nephrology, dialysis, transplantation, 2020-06, Vol.35 (Supplement_3)

2020

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P0125ELECTRON MICROSCOPIC DESCRIPTION OF A SENSITIVE DIAGNOSTIC PROXIMAL EPITHELIAL LYSOSOMAL LESION IN PATIENTS WITH CINAC/CKDU/MEN AND CNI NEPHROTOXICITY

Nephrology, dialysis, transplantation, 2020-06, Vol.35 (Supplement_3)

2020

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No evidence for involvement of SDHD in neuroblastoma pathogenesis

BMC cancer, 2004-08, Vol.4 (1), p.55-55, Article 55

2004

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Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

Journal of inherited metabolic disease, 2015-01, Vol.38 (1), p.99-110

2015

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Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.955-965

2019

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Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

European journal of paediatric neurology, 2012-09, Vol.16 (5), p.542-548

2012

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Why study regulation of genes in inherited disorders?

Advances in experimental medicine and biology, 2003, Vol.544, p.1

Roels, Frank

2003

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Plasmalogens, docosahexaenoic acid and neurological disorders

Advances in experimental medicine and biology, 2003, Vol.544, p.335

2003

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Mitochondrial Transmembrane Potential Changes Support the Concept of Mitochondrial Heterogeneity During Apoptosis

The journal of histochemistry and cytochemistry, 2001-10, Vol.49 (10), p.1277-1284

2001

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Mouse models and genetic modifiers in X-linked adrenoleukodystrophy

Advances in experimental medicine and biology, 2003, Vol.544, p.75

2003

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Early effects of gentamicin, tobramycin, and amikacin on the human kidney

Kidney international, 1984-04, Vol.25 (4), p.643-652

1984

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A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

American journal of human genetics, 2002-04, Vol.70 (4), p.1062-1068

2002

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Intra-Familial Clinical Heterogeneity: Absence of Genotype-Phenotype Correlation in Primary Hyperoxaluria Type 1 in Israel

American journal of nephrology, 2005-05, Vol.25 (3), p.269-275

2005

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Interaction of PEX3 and PEX19 visualized by fluorescence resonance energy transfer (FRET)

Advances in experimental medicine and biology, 2003, Vol.544, p.221

2003

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Characterization of the peroxisomal cycling receptor Pex5p import pathway

Advances in experimental medicine and biology, 2003, Vol.544, p.219

2003

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Cholesterol biosynthesis and regulation: role of peroxisomes

Advances in experimental medicine and biology, 2003, Vol.544, p.315

2003

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Targeted disruption of ether lipid synthesis in mice

Advances in experimental medicine and biology, 2003, Vol.544, p.355

2003

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Methods: DNA methylation

Advances in experimental medicine and biology, 2003, Vol.544, p.197

El-Maarri, Osman

2003

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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Hepatocellular transport and gastrointestinal absorption of lanthanum in chronic renal failure

Human peroxisomal disorders

Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator

Chronic interstitial nephritis in agricultural communities is a toxin-induced proximal tubular nephropathy

Migrations are of all times

Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials

MO063CHRONIC INTERSTITIAL NEPHRITIS IN AGRICULTURAL COMMUNITIES IS A TOXIN-INDUCED PROXIMAL TUBULAR NEPHROPATHY

P0125ELECTRON MICROSCOPIC DESCRIPTION OF A SENSITIVE DIAGNOSTIC PROXIMAL EPITHELIAL LYSOSOMAL LESION IN PATIENTS WITH CINAC/CKDU/MEN AND CNI NEPHROTOXICITY

No evidence for involvement of SDHD in neuroblastoma pathogenesis

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

Why study regulation of genes in inherited disorders?

Plasmalogens, docosahexaenoic acid and neurological disorders

Mitochondrial Transmembrane Potential Changes Support the Concept of Mitochondrial Heterogeneity During Apoptosis

Mouse models and genetic modifiers in X-linked adrenoleukodystrophy

Early effects of gentamicin, tobramycin, and amikacin on the human kidney

A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

Intra-Familial Clinical Heterogeneity: Absence of Genotype-Phenotype Correlation in Primary Hyperoxaluria Type 1 in Israel

Interaction of PEX3 and PEX19 visualized by fluorescence resonance energy transfer (FRET)

Characterization of the peroxisomal cycling receptor Pex5p import pathway

Cholesterol biosynthesis and regulation: role of peroxisomes

Targeted disruption of ether lipid synthesis in mice

Methods: DNA methylation

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