Lennox-Gastaut Syndrome: Pediatric Primary Care Guide
LGS usually appears in preschool-aged children. It typically takes time for all its features to emerge.
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.
Severe Combined Immunodeficiency (SCID): Primary Care Guide to a Positive Newborn Screen
Guidance for primary care clinicians receiving a positive newborn screen result.
Comparative Analysis of Psychological and Functional Patterns in Non-Binary and Transgender Youth with Autonomic Dysfunction
Postural orthostatic tachycardia syndrome (POTS), a specific form of orthostatic intolerance (OI), is a prevalent autonomic dysfunction in adolescents associated with significant physical and psychosocial challenges.
Angelman Syndrome: Pediatric Primary Care Guide
Guidance for primary care clinicians diagnosing and managing children with Angelman syndrome
Transitioning Patients from Pediatric to Adult Primary Care
Clinical guidance for transition from pediatric to adult primary care
Phenylketonuria (PKU): Primary Care Guide to a Positive Newborn Screen
Guidance for primary care clinicians receiving a positive newborn screen result
Congenital Cytomegalovirus (CMV)-Related Hearing Loss: Pediatric Primary Care Guide
Diagnoses and follow-up care for children with CMV-related hearing loss
Children with Short Stature Born Small for Gestational Age: Pediatric Primary Care Guide
Follow-up care for children with short stature born small for gestational age
Cystic Fibrosis: Pediatric Primary Care Guide
Guidance for primary care clinicians diagnosing and managing children with cystic fibrosis