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JIMD Reports|January 14, 2026
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical DiagnosisMolly M Crenshaw, Yasmeen Midgette, Shruthi Mohan, et al.
Neurology|June 24, 2004
Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14G Kuhlenbäumer, P Lüdemann, A Schirmacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoringCarine A Halaby, Sarah P Young, Stephanie Austin, et al.
Journal of Inherited Metabolic Disease|March 31, 2022
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemiaMichael A Swanson, Kristen Miller, Sarah P Young, et al.
FEBS Letters|June 1, 1999
Differential association of cytoplasmic signalling molecules SHP-1, SHP-2, SHIP and phospholipase C-gamma1 with PECAM-1/CD31N J Pumphrey, V Taylor, S Freeman, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|August 20, 2009
Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe diseaseBaodong Sun, Michael D Kulis, Sarah P Young, et al.
Conservation Biology : the Journal of the Society for Conservation Biology|November 26, 2025
Evaluating past and future contributions of conservation programs to species recoveryRebeca E Young, H Resit Akçakaya, Elizabeth L Bennett, et al.
Cancers|June 24, 2022
Young-Onset Gastrointestinal Adenocarcinoma Incidence and Survival Trends in the Northern Territory, Australia, with Emphasis on Indigenous PeoplesMia Shepherdson, Shalem Leemaqz, Gurmeet Singh, et al.
Annals of Emergency Medicine|May 11, 1992
Acute myocardial infarction in chest pain patients with nondiagnostic ECGs: serial CK-MB sampling in the emergency department. The Emergency Medicine Cardiac Research GroupW B Gibler, G P Young, J R Hedges, et al.
European Journal of Human Genetics : EJHG|August 11, 2011
Evidence of linkage to chromosomes 10p15.3-p15.1, 14q24.3-q31.1 and 9q33.3-q34.3 in non-syndromic colorectal cancer familiesIan W Saunders, Jason Ross, Finlay Macrae, et al.
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