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SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Brain (London, England : 1878), 2019-08, Vol.142 (8), p.2230-2237

2019

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Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Journal of the American Society of Nephrology, 2016-02, Vol.27 (2), p.604-614

2016

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Uridine Treatment of the First Known Case of SLC25A36 Deficiency

International journal of molecular sciences, 2021-09, Vol.22 (18), p.9929

2021

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SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Genetics in medicine, 2018-02, Vol.20 (2), p.259-268

2018

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Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p

Human molecular genetics, 2008-03, Vol.17 (6), p.806-814

2008

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CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia

PLoS genetics, 2014-04, Vol.10 (4), p.e1004267-e1004267

2014

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Transferrin variants: Pitfalls in the diagnostics of Congenital disorders of glycosylation

Clinical biochemistry, 2015-01, Vol.48 (1-2), p.11-13

2015

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Transient N‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1371-1375

2019

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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

EBioMedicine, 2016-02, Vol.4 (C), p.170-175

2016

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Prevalence of cholesteryl ester storage disease

Arteriosclerosis, thrombosis, and vascular biology, 2007-08, Vol.27 (8), p.1866-1868

2007

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Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency

Metabolites, 2024-04, Vol.14 (4), p.238

2024

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Vascular risk factors in sudden hearing loss

Thrombosis and haemostasis, 2006-03, Vol.95 (3), p.454-461

2006

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Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report

Frontiers in neurology, 2021-04, Vol.12, p.643805

2021

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Mitochondrial DNA mutations in Medulloblastoma

Acta neuropathologica communications, 2023-07, Vol.11 (1), p.124-124, Article 124

2023

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Unsaturated fatty acids suppress the expression of the ATP-binding cassette transporter G1 (ABCG1) and ABCA1 genes via an LXR/RXR responsive element

Atherosclerosis, 2007-03, Vol.191 (1), p.11-21

2007

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Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG)

JIMD reports, 2021-07, Vol.60 (1), p.42-55

2021

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SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100636-100636, Article 100636

2020

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The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation

Clinica chimica acta, 2014-09, Vol.436, p.135-139

2014

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Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Molecular genetics and metabolism reports, 2017-12, Vol.13 (C), p.33-40

2017

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Effect of the interleukin-6 promoter polymorphism (−174 G/C) on the incidence and outcome of sepsis

Critical care medicine, 2002-01, Vol.30 (1), p.32-37

2002

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Polyunsaturated Fatty Acids and Acetoacetate Downregulate the Expression of the ATP-Binding Cassette Transporter A1

Diabetes (New York, N.Y.), 2002-10, Vol.51 (10), p.2922-2928

2002

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Human ATP-Binding Cassette Transporter 1 (ABC1): Genomic Organization and Identification of the Genetic Defect in the Original Tangier Disease Kindred

Proceedings of the National Academy of Sciences - PNAS, 1999-10, Vol.96 (22), p.12685-12690

1999

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The Human ABCG4 Gene Is Regulated by Oxysterols and Retinoids in Monocyte-Derived Macrophages

Biochemical and biophysical research communications, 2001-10, Vol.288 (2), p.483-488

2001

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ADP-ribosylation factor (ARF)-like 7 (ARL7) is induced by cholesterol loading and participates in apolipoprotein AI-dependent cholesterol export

FEBS letters, 2004-05, Vol.566 (1), p.241-246

2004

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Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection

Nucleic acids research, 1993-08, Vol.21 (16), p.3623-3629

1993

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SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Uridine Treatment of the First Known Case of SLC25A36 Deficiency

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia

Transferrin variants: Pitfalls in the diagnostics of Congenital disorders of glycosylation

Transient N‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

Prevalence of cholesteryl ester storage disease

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency

Vascular risk factors in sudden hearing loss

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report

Mitochondrial DNA mutations in Medulloblastoma

Unsaturated fatty acids suppress the expression of the ATP-binding cassette transporter G1 (ABCG1) and ABCA1 genes via an LXR/RXR responsive element

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG)

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Effect of the interleukin-6 promoter polymorphism (−174 G/C) on the incidence and outcome of sepsis

Polyunsaturated Fatty Acids and Acetoacetate Downregulate the Expression of the ATP-Binding Cassette Transporter A1

Human ATP-Binding Cassette Transporter 1 (ABC1): Genomic Organization and Identification of the Genetic Defect in the Original Tangier Disease Kindred

The Human ABCG4 Gene Is Regulated by Oxysterols and Retinoids in Monocyte-Derived Macrophages

ADP-ribosylation factor (ARF)-like 7 (ARL7) is induced by cholesterol loading and participates in apolipoprotein AI-dependent cholesterol export

Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection

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