A5032158838- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Amino Acid Enzymes and Metabolism
- Lysosomal Storage Disorders Research
- Genomics and Rare Diseases
- Neuroscience of respiration and sleep
- Liver Disease Diagnosis and Treatment
- Mitochondrial Function and Pathology
- Neonatal Respiratory Health Research
- Biochemical and Molecular Research
- Neonatal Health and Biochemistry
- Neonatal and fetal brain pathology
- History of Medicine Studies
- Child Nutrition and Water Access
- Genetic and rare skin diseases.
- Cellular transport and secretion
- Pediatric Hepatobiliary Diseases and Treatments
- Autoimmune Neurological Disorders and Treatments
- Glycogen Storage Diseases and Myoclonus
- Nuclear Structure and Function
- RNA regulation and disease
- Renal and related cancers
- Intestinal Malrotation and Obstruction Disorders
Northwestern University
2021-2025
Lurie Children's Hospital
2021-2025
Boston Children's Hospital
2019-2022
Harvard University
2020-2022
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
2020
This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) infancy resulting from biallelic pathogenic TRMU variants determine role cysteine supplementation in its treatment.
In 2018, pegvaliase was approved as the first enzyme substitution treatment for phenylketonuria (PKU) and is now second medication available PKU patients since approval of sapropterin dihydrochloride in 2007. Historically, dietary management has been mainstay PKU. While response rate limited to approximately 50% patients, potential reduce phenylalanine levels all (Vockley et al., 2014; Longo 2019 [1,3]). Current FDA labeling includes a dose maximum 60 mg daily (Longo 2019; BioMarin...
Phenylketonuria (PKU) is an inheritable metabolic disorder that results in the aberrant accumulation of amino acid phenylalanine (Phe) which, if untreated, leads to a spectrum effects such as intellectual disability, seizures, and socioemotional challenges. Effective management PKU includes adherence low Phe diet regular monitoring blood levels. Despite clear multifaceted nature factors could impact patient's ability control their PKU, evaluation role social determinants health (SDOH) on...
Abstract Propionic acidemia is a metabolic condition with multiple serious acute and chronic presentations that require strict monitoring. Literature on liver function abnormalities in propionic scarce, the mechanism of impairment this remains unclear. Currently, there no indication for liver‐function tests during follow‐up their clinical or prognostic utility unknown. This study aimed to determine aminotransferase trends individuals at single institution. We retrospectively evaluated...
Argininosuccinic aciduria (ASA) is a disorder that results from deficiency in the urea cycle enzyme argininosuccinate lyase. Variable manifestations of this hereditary are associated with hyperammonemia and can include lethargy, somnolence, respiratory alkalosis neonates, vomiting, headaches, neurocognitive deficiencies later life. Management ASA includes rapid measures to address long-term steps maintain metabolic stability. paradigms should also consider social determinants health, which...
ABSTRACT Phenylketonuria (PKU) is a genetic metabolic disorder that causes the accumulation of phenylalanine (Phe) in tissues, leading to intellectual disability, seizures, and socioemotional challenges. The role social determinants health (SDOH) PKU management has not been formally studied, this investigation evaluates association between in‐home in‐office factors on blood Phe levels patients. We conducted retrospective chart review over 200 patients attending well‐resourced Clinic at Lurie...