A5051958225- Cholesterol and Lipid Metabolism
- Metabolism and Genetic Disorders
- Peroxisome Proliferator-Activated Receptors
- Lysosomal Storage Disorders Research
- Connective tissue disorders research
- Lipoproteins and Cardiovascular Health
- Diet and metabolism studies
- Neonatal Health and Biochemistry
- Drug Transport and Resistance Mechanisms
- Lipid metabolism and biosynthesis
- Folate and B Vitamins Research
- Cancer, Lipids, and Metabolism
- Genomics and Rare Diseases
- Bone fractures and treatments
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Intellectual Property and Patents
- Bone and Dental Protein Studies
- Bioeconomy and Sustainability Development
- Amino Acid Enzymes and Metabolism
- Neurogenetic and Muscular Disorders Research
- BRCA gene mutations in cancer
- Trypanosoma species research and implications
- Biochemical and Molecular Research
University of Wisconsin–Madison
2016-2025
Marshfield Clinic
1993-2025
Exact Sciences (United States)
2023-2025
Marshfield Clinic
2013-2024
Hanover College
2024
Institute for Transport Sciences
2024
World Heart Federation
2024
Pediatrics and Genetics
2008-2024
New York Proton Center
2024
Technische Universität Dresden
2024
The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process standardization outcomes guidelines for state newborn screening programs define responsibilities collecting evaluating outcome data, including recommended uniform panel conditions include in programs. expert identified 29 which should be mandated. An additional 25 were because they are part differential diagnosis condition core panel, clinically significant revealed with technology...
Genome-scale sequencing creates vast amounts of genomic data, increasing the challenge clinical sequence variant interpretation. The demand for high-quality interpretation requires multiple specialties to join forces accelerate pathogenicity. With over 600 international members including clinicians, researchers, and laboratory diagnosticians, Clinical Genome Resource (ClinGen), funded by National Institutes Health, is forming expert groups systematically evaluate variants in clinically...
The objective of this document is to provide recommendations for genetic counseling and screening consanguineous couples (related as second cousins or closer) their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome identifying choices3. reducing morbidity mortality in 1st years life, and4. respecting psychosocial multicultural issues.The are opinions a multicenter working group (the Consanguinity Working Group (CWG)) expertise...
abstract Context: Information on the use of oral bisphosphonate agents to treat pediatric osteogenesis imperfecta (OI) is limited. Objective: The objective investigation was study efficacy and safety daily alendronate (ALN) in children with OI. Design Participants: We conducted a multicenter, double-blind, randomized, placebo-controlled study. One hundred thirty-nine (aged 4–19 yr) type I, III, or IV OI were randomized either placebo (n = 30) ALN 109) for 2 yr. doses 5 mg/d less than 40 kg...
Abstract Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis. Affected children often have malformations and mental retardation. Autistic behaviors also are evident. The purpose of the present study was to determine prevalence autism spectrum disorders (ASDs) with SLOS. Fourteen children, 3–16 years old, were evaluated using three different methods document autistic symptoms: (a) parent interview, (b) direct observation, (c)...
In male patients with Fabry disease, an X-linked disorder of glycosphingolipid metabolism caused by deficient activity the lysosomal enzyme alpha-galactosidase A, kidney dysfunction becomes apparent third decade life and invariably progresses to ESRD without treatment. Here, we summarize effects agalsidase alfa on function from three prospective, randomized, placebo-controlled trials their open-label extension studies involving 108 adult patients. The mean baseline GFR among 54...
Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder fewer manifestations mild abnormalities. Accurate assessments on frequency clinical characteristics have been scarce. The aim this study was collect such data.
Object Infantile and late-infantile neuronal ceroid lipofuscinoses (NCLs) are invariably fatal lysosomal storage diseases associated with defects in enzyme palmitoyl-protein thioesterase 1 (PPT-1) or tripeptidyl peptidase (TPP1) activity. Previous preclinical studies have demonstrated that human CNS stem cells (HuCNS-SCs) produce both PPT-1 TPP1 result donor cell engraftment reduced accumulation of material the brain when tested an NCL mouse model. Methods HuCNS-SC transplantation was...
Although biallelic mutations in non-collagen genes account for <10% of individuals with osteogenesis imperfecta, the characterization these has identified new pathways and potential interventions that could benefit even those type I collagen genes. We FKBP10, which encodes 65 kDa prolyl cis–trans isomerase, FKBP65, 38 members 21 families OI. These include 10 from Samoan Islands who share a founder mutation. Of mutations, three are missense; remainder either introduce premature termination...
Recessive mutations in the cartilage-associated protein (CRTAP), leucine proline-enriched proteoglycan 1 (LEPRE1) and peptidyl prolyl cis-trans isomerase B (PPIB) genes result phenotypes that range from lethal perinatal period to severe deforming osteogenesis imperfecta (OI). These encode CRTAP (encoded by CRTAP), 3-hydroxylase (P3H1; encoded LEPRE1) cyclophilin (CYPB; PPIB), which reside rough endoplasmic reticulum (RER) can form a complex involved 3-hydroxylation type I procollagen. CYPB,...
Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum (ASD) are believed to partially share genetic factors biological influences. As the number of children with these diagnoses rises, so does younger siblings at presumed risk for ADHD ASD; reliable recurrence estimates within across may aid screening early detection efforts enhance understanding potential shared causes.To examine within-diagnosis sibling cross-aggregation ASD among later-born either disorder.Using data...