A5070834232- Lysosomal Storage Disorders Research
- Carbohydrate Chemistry and Synthesis
- Adipose Tissue and Metabolism
- Fatty Acid Research and Health
- Fetal and Pediatric Neurological Disorders
- Trypanosoma species research and implications
- Genetic and Kidney Cyst Diseases
- Childhood Cancer Survivors' Quality of Life
- Neuroblastoma Research and Treatments
- Respiratory viral infections research
- Ion channel regulation and function
- Receptor Mechanisms and Signaling
- RNA Interference and Gene Delivery
- BRCA gene mutations in cancer
- Nitric Oxide and Endothelin Effects
- Neurobiology and Insect Physiology Research
- Cardiac electrophysiology and arrhythmias
- Enzyme Production and Characterization
- Metabolism and Genetic Disorders
- Advanced Fluorescence Microscopy Techniques
- Cancer, Lipids, and Metabolism
- Physiological and biochemical adaptations
- Influenza Virus Research Studies
- Renal and related cancers
- Cell Image Analysis Techniques
Barrow Neurological Institute
2025
University of Arizona
2025
Phoenix Children's Hospital
2022-2023
Harvard University
2022
Boston Children's Hospital
2021
Johns Hopkins Hospital
2021
Johns Hopkins University
2020
Johns Hopkins Medicine
2020
Pegunigalsidase alfa is a PEGylated α-galactosidase A enzyme replacement therapy. BALANCE (NCT02795676) assessed non-inferiority of pegunigalsidase versus agalsidase beta in adults with Fabry disease an annualised estimated glomerular filtration rate (eGFR) slope more negative than -2 mL/min/1.73 m
Implementation and adherence to consensus statement criteria for referral of pediatric cancer patients genetic evaluation are critical identify the 5% 10% with a predisposition syndrome. The authors implemented Plan-Do-Study-Act quality improvement initiative aimed at increasing referrals at-risk patients. Retrospective chart review was followed by educational intervention-with impact assessed over 9-month prospective review. Referral rate improved >2-fold there an in documented oncologic...
Tyrosinemia type I (hepatorenal tyrosinemia [HT-1]) is an autosomal recessive disorder of tyrosine (Tyr) metabolism marked by hepatic failure, renal and neurologic comorbidities, risk hepatocellular carcinoma (HCC). Effective treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (nitisinone, NTBC) reduces clinical symptoms HCC. Patients who start NTBC still require screening for emergence Serum alpha-fetoprotein (AFP) should be assessed at baseline, monthly during the...
Joubert syndrome (JS) is a neurodevelopmental disorder characterized by hypotonia and developmental delay, as well the obligatory molar tooth sign on brain imaging. Since delay are nonspecific features, there must be high level of clinical suspicion JS so that diagnostic imaging and/or molecular testing for >38 genes associated with is/are obtained. The goal this study was to analyze photographs cohort patients define list physical examination features should prompt investigation JS....
Abstract Joubert syndrome (JS) is a genetically heterogenous disorder of nonmotile cilia with characteristic “molar tooth sign” on axial brain imaging. Clinical features can include developmental delay, kidney failure, liver disease, and retinal dystrophy. Prospective growth measurement data 170 individuals JS were collected, including parental measurements, birth serial measures when available. Analysis parameters in the context hepatorenal genotype, other was performed 100 assessed at...