A5000261070- Metabolism and Genetic Disorders
- Growth Hormone and Insulin-like Growth Factors
- Diet and metabolism studies
- Folate and B Vitamins Research
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Genomic variations and chromosomal abnormalities
- Attention Deficit Hyperactivity Disorder
- Neonatal Health and Biochemistry
- Bipolar Disorder and Treatment
- Schizophrenia research and treatment
- Biochemical and Molecular Research
- Muscle metabolism and nutrition
- Neurotransmitter Receptor Influence on Behavior
- Amino Acid Enzymes and Metabolism
- Salmonella and Campylobacter epidemiology
- Cytokine Signaling Pathways and Interactions
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Congenital heart defects research
- Birth, Development, and Health
- Pharmaceutical studies and practices
- Receptor Mechanisms and Signaling
- Prenatal Screening and Diagnostics
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
University of Minnesota
2016-2025
Boston Children's Hospital
2019-2025
Duke University
2025
Applied Genetic Technologies (United States)
2025
University of Minnesota Medical Center
1987-2024
University of Aberdeen
2012-2024
Harvard University
2019-2024
Twin Cities Orthopedics
2024
Boston Children's Museum
2022
University of Minnesota System
2022
The combination of intravenous sodium phenylacetate and benzoate has been shown to lower plasma ammonium levels improve survival in small cohorts patients with historically lethal urea-cycle enzyme defects.
Inborn errors of the pyruvate dehydrogenase complex (PDC) are associated with lactic acidosis, neuroanatomic defects, developmental delay, and early death. PDC deficiency is a clinically heterogeneous disorder, most mutations located in coding region X-linked α subunit first catalytic component, (E<sub>1</sub>). Treatment E<sub>1</sub> has included cofactor replacement, activation dichloroacetate, ketogenic diets. In this report, we describe outcome diet treatment seven boys deficiency....
Patients with Klippel-Trenaunay (KT) syndrome have a complex constellation of anomalies that includes cutaneous capillary malformation (usually on an affected limb), abnormal development the deep and superficial veins, limb asymmetry, usually enlargement. Mixed vascular malformations may be present include capillary, venous, arterial, lymphatic systems. The records 79 patients referred for were reviewed 49 found to three “cardinal” KT syndrome. Twenty-six females 23 males had 46 legs (27...
Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal caused by mutations in the osteoblast-specific transcription factor CBFA1. To correlate CBFA1 different functional domains with CCD clinical spectrum, we studied 26 independent cases of and total 16 new were identified 17 families. The majority de novo missense that affected conserved residues runt domain completely abolished both DNA binding transactivation reporter gene. These, which result premature termination domain,...
Insulin-like growth factor I (IGF-I) is a mitogenic polypeptide present in the plasma of man and rat that thought to mediate actions pituitary hormone on cartilage promote skeletal elongation.In rat, levels IGF-I show both developmental hormonal regulation: are low at birth, increase with age, decreased hormone-deficient adult animals.The study demonstrates these changes reflect abundance RNA liver.A human cDNA probe hybridized multiple species liver sizes 8.6,4.6,3.2,2.1,...
Obesity is common in persons with schizophrenia. Besides its adverse health effects, obesity reduces quality of life and contributes to the social stigma schizophrenia.This 14-week, multicenter, open-label, rater-blinded, randomized study evaluated effects a group-based behavioral treatment (BT) for weight loss overweight obese stable patients DSM-IV schizophrenia or schizoaffective disorder who had been switched from olanzapine risperidone. Participants were randomly assigned receive BT...
The debate about how to manage individual research results and incidental findings in genetic genomic has focused primarily on what information, if any, offer back participants. However, increasing controversy surrounds the question of whether researchers have any responsibility a participant’s (defined here include both findings) relatives, including after death. This arises multiple contexts, when discover result with potentially important health implications for relatives ask researcher...
Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications characterize MFS. CCA MFS result from mutations in highly similar genes, FBN2 FBN1, respectively. All identified cluster a limited region to where severe specifically between exons 23 34. We screened 22 through 36 of for 13 patients classic by single stranded conformational polymorphism analysis...
ABSTRACT Colonization of the gastric mucosa by Helicobacter pylori can lead to serious clinical outcomes, including cancer. Toll-like receptors (TLRs) play an important role in host response H. through recognition pathogen-associated molecular patterns. TLR9, particular, is partly responsible for initiating bacterial induced immunity binding unmethylated CpG-DNA, which abundant bacteria. A well-documented single nucleotide polymorphism (SNP) within TLR9 promoter ( −1237T/C), associated with...
Abstract Glycerol phenylbutyrate is under development for treatment of urea cycle disorders (UCDs), rare inherited metabolic manifested by hyperammonemia and neurological impairment. We report the results a pivotal Phase 3, randomized, double-blind, crossover trial comparing ammonia control, assessed as 24-hour area curve (NH3-AUC0-24hr), pharmacokinetics during with glycerol versus sodium (NaPBA) in adult UCD patients combined four studies involving short- long-term ages 6 above. was...
Abstract Minnesota became the fourth state to begin newborn screening (NBS) for X‐linked adrenoleukodystrophy (X‐ALD) in 2017. As there is limited retrospective data available on NBS X‐ALD, we analyzed Minnesota's results from first year of screening. C26:0 lysophosphatidylcholine (C26:0‐LPC) 67,836 infants and confirmatory testing ( ABCD1 gene serum VLCFA analysis) screen positives were obtained. Fourteen (nine males, five females) screened positive X‐ALD all subsequently confirmed have...
Objective Individuals with urea cycle disorders (UCDs) often present intellectual and developmental disabilities. The major aim of this study was to evaluate the impact diagnostic therapeutic interventions on cognitive outcomes in UCDs. Methods This prospective, observational, multicenter includes data from 503 individuals UCDs who had comprehensive neurocognitive testing a cumulative follow‐up 702 patient‐years. Results mean standard deviation score (cSDS) lower symptomatic than...