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A new opportunity: metabolism and neuropsychiatric disorders

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.583-584

2018

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The challenge of CDG diagnosis

Molecular genetics and metabolism, 2019-01, Vol.126 (1), p.1-5

2019

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Free virtual issue: novel paradigms for in inborn errors with muscular and central neuropathology

Neuropathology and applied neurobiology, 2020-10, Vol.46 (6), p.517-518

2020

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Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-398, Article 398

2022

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Mitochondrial disease criteria: diagnostic applications in children

Neurology, 2006-11, Vol.67 (10), p.1823-1826

2006

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Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.526-533

2012

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Thrombotic complications in patients with PMM2-CDG

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.107-111

2013

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Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.745-747

2017

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Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia

Balkan journal of medical genetics, 2019-12, Vol.22 (2), p.77-82

2019

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The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group

JIMD Reports, Volume 27, 2016-01, Vol.27, p.85-91

2016

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Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

JIMD Reports, Volume 27, 2016-01, Vol.27, p.33-38

2016

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Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

Journal of inherited metabolic disease, 2018-02, p.1-16

2018

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009-06, Vol.18 (12), p.2149-2165

2009

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Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)

JIMD Reports, Volume 27, 2016-01, Vol.27, p.93-99

2016

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Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps

Journal of inherited metabolic disease, 2008-06, Vol.31 (3), p.450-456

2008

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Depressive behaviour in children diagnosed with a mitochondrial disorder

Mitochondrion, 2010-08, Vol.10 (5), p.528-533

2010

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Major depression in adolescent children consecutively diagnosed with mitochondrial disorder

Journal of affective disorders, 2009-04, Vol.114 (1), p.327-332

2009

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Abnormal fat distribution in PMM2-CDG

Molecular genetics and metabolism, 2013-11, Vol.110 (3), p.411-413

2013

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Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

British journal of ophthalmology, 2009-03, Vol.93 (3), p.350-354

2009

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Clinical and paraclinical features of phosphoglucomutase type 1 deficiency: Biochemical clues for the diagnosis

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S221-S221

2015

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Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model: “When the wine goes in, strange things come out” – S.T. Coleridge, The Piccolomini

Journal of inherited metabolic disease, 2012-05, Vol.35 (3), p.399-405

2012

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Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants

Journal of inherited metabolic disease, 2024-09, Vol.47 (5), p.935-944

2024

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3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy

Neurology, 2010-09, Vol.75 (12), p.1079-1083

2010

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The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

JIMD Reports, Volume 27, 2016-01, Vol.27, p.101-106

2016

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Substrate deprivation therapy in juvenile Sandhoff disease

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.307-311

2009

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A new opportunity: metabolism and neuropsychiatric disorders

The challenge of CDG diagnosis

Free virtual issue: novel paradigms for in inborn errors with muscular and central neuropathology

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Mitochondrial disease criteria: diagnostic applications in children

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

Thrombotic complications in patients with PMM2-CDG

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group

Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)

Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps

Depressive behaviour in children diagnosed with a mitochondrial disorder

Major depression in adolescent children consecutively diagnosed with mitochondrial disorder

Abnormal fat distribution in PMM2-CDG

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

Clinical and paraclinical features of phosphoglucomutase type 1 deficiency: Biochemical clues for the diagnosis

Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model: “When the wine goes in, strange things come out” – S.T. Coleridge, The Piccolomini

Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

Substrate deprivation therapy in juvenile Sandhoff disease

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