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View article: Patient-recorded indexing measurements (PRIMS) – study protocol of a prospective observational cohort study to improve the accuracy of the diagnosis of cancer cachexia
Patient-recorded indexing measurements (PRIMS) – study protocol of a prospective observational cohort study to improve the accuracy of the diagnosis of cancer cachexia Open
View article: Cost–Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study
Cost–Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study Open
X-linked adrenoleukodystrophy (ALD) is an inherited metabolic disorder that can cause adrenal insufficiency and cerebral ALD (cALD) in childhood. Early detection prevents adverse health outcomes and can be achieved by newborn screening (NB…
View article: Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects
Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects Open
Bile acid synthesis defects (BASDs) comprise a group of rare, often severe, metabolic disorders. Bile acid replacement therapy decreases toxic bile acid intermediates production and improves biochemical profiles, potentially delaying or st…
View article: Treatment of leukodystrophies: Advances and challenges
Treatment of leukodystrophies: Advances and challenges Open
Leukodystrophies, a group of genetic disorders primarily affecting brain white matter, were once considered untreatable. Advances in MRI and genetic diagnostics now allow most patients to receive a genetic diagnosis, and emerging treatment…
View article: Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy Open
View article: Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy
Progression of Spinal Cord Disease in Adult Men With Adrenoleukodystrophy Open
This study presents the longest systematic prospective follow‐up of spinal cord disease in adult male ALD patients to date. Standardized yearly quantitative data collection included scoring of the EDSS, SSPROM, 6‐min walking test (6MWT), u…
View article: Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy
Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy Open
The pathophysiology of X-linked adrenoleukodystrophy (ALD) is not well-understood. New quantitative MRI (qMRI) sequences, such as myelin-water imaging (MWI) and multi-shell diffusion-weighted imaging (DWI), are non-invasive techniques that…
View article: Neurocognitive Outcome after Pediatric Traumatic Brain Injury: Patient Subgroups with Diverging Outcome
Neurocognitive Outcome after Pediatric Traumatic Brain Injury: Patient Subgroups with Diverging Outcome Open
Background and Objectives Traumatic brain injury (TBI) is the leading cause of acquired disability in children. Children with TBI are at risk of persistent deficits in neurocognitive functioning that affect daily life. However, neurocognit…
View article: Altered lipid profile and reduced neuronal support in <scp>human induced pluripotent stem cell</scp>‐derived astrocytes from adrenoleukodystrophy patients
Altered lipid profile and reduced neuronal support in <span>human induced pluripotent stem cell</span>‐derived astrocytes from adrenoleukodystrophy patients Open
X‐linked adrenoleukodystrophy (ALD) is a peroxisomal disorder resulting from pathogenic variants in the ABCD1 gene that primarily affects the nervous system and is characterized by progressive axonal degeneration in the spinal cord and per…
View article: The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review
The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review Open
View article: CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature Open
Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by…
View article: Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy Open
Although X-linked adrenoleukodystrophy (ALD) has historically been considered a childhood disease managed by pediatric neurologists, it is one of the most common leukodystrophies diagnosed in adulthood. An increase in both male and female …
View article: Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency Open
View article: Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy Open
Background X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1 resulting very long-chain fatty acids (VLCFA) accumulation in plasma and tissues. Males can present with various clinical ma…
View article: Typical and atypical <scp>MRI</scp> patterns of rare brain disorders: The challenge of low numbers
Typical and atypical <span>MRI</span> patterns of rare brain disorders: The challenge of low numbers Open
This commentary is on the original article by Oikarainen et al. on pages 186–194 of this issue.
View article: Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice
Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice Open
View article: International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy
International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy Open
Background The most common manifestation of X‐linked adrenoleukodystrophy (ALD) is a slowly progressive myeloneuropathy, which leads to imbalance and gait disturbances. The variable progression of the disease complicates evaluation of its …
View article: The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology
The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology Open
View article: Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy Open
Austrian Science Fund, European Leukodystrophy Association.
View article: Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening
Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening Open
Newborn screening (NBS) for X-linked adrenoleukodystrophy (ALD) can identify affected individuals before the onset of life-threatening manifestations. Some countries have decided to only screen boys (sex-specific screening). This study inv…
View article: <i>SLC6A1</i> variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
<i>SLC6A1</i> variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis Open
Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand the disease mecha…
View article: Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing) Open
Background/Objectives The timely diagnosis of inherited metabolic disorders (IMD) is essential for initiating treatment, prognostication and genetic testing of relatives. Recognition of IMD in adults is difficult, because phenotypes are di…
View article: Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons
Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons Open
View article: Structured Multidisciplinary Follow-Up After Pediatric Intensive Care: A Model for Continuous Data-Driven Health Care Innovation
Structured Multidisciplinary Follow-Up After Pediatric Intensive Care: A Model for Continuous Data-Driven Health Care Innovation Open
OBJECTIVES: Morbidity after PICU admission for critical illness is a growing concern. Sequelae may occur in various domains of functioning and can only appropriately be determined through structured follow-up. Here, we describe the process…
View article: Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial Open
View article: Sex‐specific newborn screening for <scp>X‐linked</scp> adrenoleukodystrophy
Sex‐specific newborn screening for <span>X‐linked</span> adrenoleukodystrophy Open
Males with X‐linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long‐chai…
View article: International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy Open
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystr…
View article: Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients Open
Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late‐onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment…
View article: Resting-state network organisation in children with traumatic brain injury
Resting-state network organisation in children with traumatic brain injury Open
View article: Towards PErsonalised PRognosis for children with traumatic brain injury: the PEPR study protocol
Towards PErsonalised PRognosis for children with traumatic brain injury: the PEPR study protocol Open
Introduction Traumatic brain injury (TBI) in children can be associated with poor outcome in crucial functional domains, including motor, neurocognitive and behavioural functioning. However, outcome varies between patients and is mediated …