Last Updated: 09/26/2026
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Found 8 publications
Phenotype variability in six new patients with beta-mannosidosis.
Journal: Molecular genetics and metabolism
Published: May 11, 2026
Influenza-Associated Acute Necrotizing Encephalopathy in US Children.
Journal: JAMA
Published: July 30, 2025
Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 15, 2025
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Journal: Journal of medical genetics
Published: June 02, 2023
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 21, 2021
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.
Journal: American journal of medical genetics. Part A
Published: May 30, 2021
Improving Detection of Cancer Predisposition Syndromes in Pediatric Oncology.
Journal: Journal of pediatric hematology/oncology
Published: May 13, 2020
Late Development of Hepatocellular Carcinoma in Tyrosinemia Type 1 Despite Nitisinone (NTBC) Treatment.
Journal: Journal of pediatric gastroenterology and nutrition
Published: March 07, 2020
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Last Updated: 09/26/2026