Related Experiment Videos
Response to Hartley et al. and Mullegama et al
Pranoot Tanpaiboon1, Kimberly A Chapman1
1Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complications.
Molecular genetics and metabolism·2025
Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.
Journal of child neurology·2025
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.
American journal of human genetics·2025
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.
medRxiv : the preprint server for health sciences·2024
Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
Pediatrics international : official journal of the Japan Pediatric Society·2024
Plasma arginine levels in arginase deficiency in the "real world".
Molecular genetics and metabolism reports·2024
Cost-effectiveness of BRCA1/BRCA2 Variant Reclassification and Recontact for Hereditary Breast and Ovarian Cancer in the United States.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
P-KNN: joint calibration of multiple pathogenicity prediction tools streamlines variant classification.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
The Fetal Fentanyl Syndrome: Additional evidence in support of a new human teratogen.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Patient and primary care clinician perspectives on polygenic risk scores for prostate cancer screening: a national qualitative study.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Short-term outcomes of a randomized, mixed-methods trial to improve hereditary cancer test results disclosure and follow-up communication with family.
Genetics in medicine : official journal of the American College of Medical Genetics·2026
Development of a simple clinical score to prioritize detection of severe alpha-1 antitrypsin deficiency with PiZZ genotype.
Genetics in medicine : official journal of the American College of Medical Genetics·2026