5 results match your criteria: "New Leaf Center Clinic for Special Children[Affiliation]"
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series.
Mol Genet Metab Rep
December 2024
New Leaf Center Clinic for Special Children, 16014 East Chestnut Street Mount Eaton, OH, USA.
Article Synopsis
Glycogen storage disease type 1a in the Ohio Amish.
JIMD Rep
September 2022
Department of Pediatric Gastroenterology, Hepatology, and Nutrition Cleveland Clinic Foundation Cleveland Ohio USA.
Article Synopsis
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Genet Med
November 2022
Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. Electronic address:
Purpose: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis.
Methods: Clinical, genomic, biochemical, and functional studies were performed alongside in vivo modeling of DAW1 variants.
Vaccination patterns of the northeast Ohio Amish revisited.
Vaccine
February 2021
New Leaf Center Clinic for Special Children, 16014 E Chestnut St, Mt Eaton, OH 44659, United States; Akron Children's Hospital, Department of Pediatrics, 214 W Bowery St, Akron, OH 44308, United States.
Article Synopsis
Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.
J Clin Immunol
February 2020
New Leaf Center Clinic for Special Children, 15988 Chestnut, Mt Eaton, OH, 44659, USA.