Publications by authors named "H Blessing"
Article Synopsis
- Regulation of hydrogen sulfide (HS) homeostasis in humans is not well understood, prompting a study of patients with rare enzyme deficiencies related to HS synthesis and catabolism.
- Analysis of sulfur compounds in these patients revealed unexpected results, such as increased bioavailable sulfide levels in those with cystathionine β-synthase (CBS) deficiency, suggesting compensatory mechanisms at play.
- The study highlights the complexity of HS regulation, showing that various genetic defects can lead to altered levels of sulfur compounds, underscoring the need for a thorough understanding of HS homeostasis in metabolic disorders.
Background: Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studies advocate to further sequence transcriptomes to directly and systematically probe gene expression defects. However, collection of additional biopsies and establishment of lab workflows, analytical pipelines, and defined concepts in clinical interpretation of aberrant gene expression are still needed for adopting RNA sequencing (RNA-seq) in routine diagnostics.
View Article and Find Full Text PDFIsovaleric aciduria (IVA), a metabolic disease with severe (classic IVA) or attenuated phenotype (mild IVA), is included in newborn screening (NBS) programs worldwide. The long-term clinical benefit of screened individuals, however, is still rarely investigated. A national, prospective, observational, multi-center study of individuals with confirmed IVA identified by NBS between 1998 and 2018 was conducted.
View Article and Find Full Text PDFBackground: The detection of methylmalonic acid (MMA) by second-tier analysis has been shown to reduce the number of false positives in newborn screening (NBS) for genetically determined methylmalonic acidurias (MMAuria). In addition to genetic conditions, MMA is an indicator of vitamin B12 status, thus applicable to detect maternal vitamin B12 deficiency in the newborns screened.
Methods: Biochemical and clinical follow-up data of a 7.
Background: Homozygous familial hypercholesterolemia (hoFH) can cause severe atherosclerotic cardiovascular disease (ASCVD) in early infancy. Diagnosis and initiation of effective lipid-lowering therapy (LLT) are recommended as early as possible to prevent ASCVD-related morbidity and mortality.
Methods: The clinical courses of a pair of siblings with an identical hoFH genotype, who exhibited major similarities of their clinical phenotype were analyzed in a case-control fashion including the family.