Peter Witters
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View article: Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology
Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology Open
Hexose-phosphates play a role in many metabolic pathways, such as glycolysis and glycosylation. To understand the molecular basis of diseases such as congenital disorders of glycosylation (CDG), information about the source and abundance o…
View article: Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study Open
Congenital HL represents a ubiquitous symptom in severe types of MEGD(H)EL syndrome, being absent in late onset milder forms. Regularly, severely affected MEGD(H)EL patients do not achieve spoken language, even with CI. Hence, hearing reha…
View article: Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation Open
SLC35A2-CDG is an X-linked congenital disorder of glycosylation (CDG), characterized by defective UDP-galactose transport into the Golgi and endoplasmic reticulum and consequent insufficient galactosylation of glycans. Clinically, this tra…
View article: An unusual case of neuroblastoma presenting with prolonged watery diarrhea in a pediatric patient
An unusual case of neuroblastoma presenting with prolonged watery diarrhea in a pediatric patient Open
Neuroblastomas represent a diverse group of neuroblastic tumors characterized by variability in their clinical progression and degree of differentiation. In rare cases, patients with neuroblastoma may present with paraneoplastic syndromes,…
View article: Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature
Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature Open
View article: Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation Open
SLC35A2-CDG is an X-linked congenital disorder of glycosylation (CDG), characterized by defective UDP-galactose transport into the Golgi and endoplasmic reticulum and consequent insufficient galactosylation of glycans. Clinically, this tra…
View article: Plain Language Summary of the ASCEND-Peds study looking at the results of treatment with olipudase alfa after two years in children with acid sphingomyelinase deficiency (ASMD)
Plain Language Summary of the ASCEND-Peds study looking at the results of treatment with olipudase alfa after two years in children with acid sphingomyelinase deficiency (ASMD) Open
View article: The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) Open
View article: Quality of life in children with erythropoietic protoporphyria: a case–control study
Quality of life in children with erythropoietic protoporphyria: a case–control study Open
Erythropoietic protoporphyria (EPP) is an inherited metabolic disease that causes painful phototoxic reactions, starting in childhood. Studies have shown a reduced quality of life (QoL) in adults with EPP, however, data on children with th…
View article: Single‐cell <scp>RNA</scp> sequencing of cystic fibrosis liver disease explants reveals endothelial complement activation
Single‐cell <span>RNA</span> sequencing of cystic fibrosis liver disease explants reveals endothelial complement activation Open
Background & Aims Cystic fibrosis (CF) is considered a multisystemic disorder in which CF‐associated liver disease (CFLD) is the third most common cause of mortality. Currently, no effective treatment is available for CFLD because its path…
View article: Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort Open
The FCDGC Natural History Study serves as an important resource to build future research studies, improve clinical care, and prepare for clinical trial readiness. Herein is the first overview of CDG participants of the FCDGC Natural Histor…
View article: Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG Open
We report on the largest single dataset of patients with PMM2‐CDG enrolled in an ongoing international, multicenter natural history study collecting genetic, clinical, and biological information to evaluate similarities with previous studi…
View article: A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference
A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference Open
Alkaptonuria is characterized by the accumulation of homogentisic acid which causes dark coloration of urine upon standing, ochronosis, and arthritis. A 4-year old child was referred to our pediatric nephrologist with hyperoxaluria and a h…
View article: Integrating multiple omics levels using the human protein complexome as a framework, a multi-omics study of inborn errors of metabolism
Integrating multiple omics levels using the human protein complexome as a framework, a multi-omics study of inborn errors of metabolism Open
Proteins organize into functional assemblies that drive diverse biological activities. Leveraging a comprehensive dataset of manually curated annotations for the human protein complexome, we investigated biological perturbations at the pro…
View article: Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome
Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome Open
Background SERAC1 related MEGD(H)EL syndrome is a rare but regularly severely disabling and progressive inborn metabolic disease characterized by 3-methylglutaconic aciduria, dystonia and deafness, encephalopathy, (hepatopathy) and a Leigh…
View article: Tracer metabolomics reveals the role of aldose reductase in glycosylation
Tracer metabolomics reveals the role of aldose reductase in glycosylation Open
Abnormal polyol metabolism is predominantly associated with diabetes, where excess glucose is converted to sorbitol by aldose reductase (AR). Recently, abnormal polyol metabolism has been implicated in phosphomannomutase 2 congenital disor…
View article: Fractionated plasma N‐glycan profiling of novel cohort of <scp>ATP6AP1‐CDG</scp> subjects identifies phenotypic association
Fractionated plasma N‐glycan profiling of novel cohort of <span>ATP6AP1‐CDG</span> subjects identifies phenotypic association Open
ATP6AP1‐CDG is an X‐linked disorder typically characterized by hepatopathy, immunodeficiency, and an abnormal type II transferrin glycosylation pattern. Here, we present 11 new patients and clinical updates with biochemical characterizatio…
View article: Liver abscesses in the Western pediatric population
Liver abscesses in the Western pediatric population Open
Background and study aims: Liver abscesses are rare in the Western pediatric population and data on predisposing factors and etiology are scarce. We aimed to describe predisposing factors, microbiological characteristics, and treatment. Pa…
View article: Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction
Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction Open
Our findings reinforce the importance of the NAD+/NADH imbalance following OXPHOS dysfunction in PMD and open the door to new diagnostic and therapeutic tools for PMD.
View article: Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature
Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature Open
View article: Understanding Inborn Errors of Metabolism through Metabolomics
Understanding Inborn Errors of Metabolism through Metabolomics Open
Inborn errors of metabolism (IEMs) are rare diseases caused by a defect in a single enzyme, co-factor, or transport protein. For most IEMs, no effective treatment is available and the exact disease mechanism is unknown. The application of …
View article: Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study Open
View article: Genotype-Phenotype Correlations in PMM2-CDG
Genotype-Phenotype Correlations in PMM2-CDG Open
PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2…
View article: Sorbitol Is a Severity Biomarker for <scp>PMM2‐CDG</scp> with Therapeutic Implications
Sorbitol Is a Severity Biomarker for <span>PMM2‐CDG</span> with Therapeutic Implications Open
Objective Epalrestat, an aldose reductase inhibitor increases phosphomannomutase (PMM) enzyme activity in a PMM2‐congenital disorders of glycosylation (CDG) worm model. Epalrestat also decreases sorbitol level in diabetic neuropathy. We ev…
View article: Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Open
View article: Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta Open
The bone disorder osteogenesis imperfecta (OI) is genetically heterogeneous. Most affected individuals have an autosomal dominant disorder caused by heterozygous variants in either of the type I collagen genes (COL1A1 or COL1A2
View article: Endothelial CFTR dysfunction and its involvement in the pathogenesis of pulmonary arterial hypertension
Endothelial CFTR dysfunction and its involvement in the pathogenesis of pulmonary arterial hypertension Open
International audience
View article: Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy Open
Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM#618278) is a rare clinical condition caused by bi‐allelic variants in NHL repeat containing protein 2 ( NHLRC2 , MIM*618277). Pulmonary disease may be the presenting sign a…
View article: Author response for "Expanding the phenotypic spectrum of FINCA syndrome beyond infancy"
Author response for "Expanding the phenotypic spectrum of FINCA syndrome beyond infancy" Open
View article: Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? Open