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Topical Reviews in Pediatrics

Topical Reviews in Pediatrics

Evidence-based information for professionals and families to achieve the best possible outcomes for the health, well-being, and success of children and adolescents.

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Brian J. Shayota, MD, MPH

Bio: Dr. Shayota completed his medical degree at St. George’s University, School of Medicine. He then completed a Pediatric residency at New York Medical College in Paterson, NJ, and a Medical Genetics residency and Medical Biochemical fellowship at Baylor College of Medicine. Dr. Brian Shayota is an Assistant Professor of Pediatrics and Medical Genetics at the University of Utah/Primary Children's Hospital. He is also the Director of Metabolic Services, Director of the Telegenetics Consultation Services offered to Level III NICUs throughout Utah, and Director of the ReSeq clinic.

Dr. Shayota’s career has focused on caring for patients with rare inborn errors of metabolism and discovering new/rare genetic conditions. Dr. Shayota is particularly interested in identifying new therapeutic approaches to rare genetic disorders, including service as the primary investigator on several clinical trials using novel treatments like gene therapy in human trials. He is also the lead metabolic specialist reviewing newborn screens for the states of Utah, Nevada, and Alaska. He is passionate about expanding access to genetic services in rural communities and creating innovative public health programs that place the interests of the patient and their family first.

No conflicts of interest to report
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Posted on May 28, 2025July 31, 2025 | Vol. | Iss.

2M3HBA Deficiency: Primary Care Guide to a Positive Newborn Screen

2M3HBA deficiency is an X-linked disorder caused by pathogenic variants in the HSD17B10 gene (previously known as HADH2), which encodes the enzyme 17β-hydroxysteroid dehydrogenase type 10.

Posted on November 21, 2024July 29, 2025 | Vol. | Iss.

Phenylketonuria (PKU): Primary Care Guide to a Positive Newborn Screen

Guidance for primary care clinicians receiving a positive newborn screen result

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