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JIMD Reports|June 17, 2016
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) DeficiencyAmanda Smith, Skye McBride, Julien L Marcadier, et al.
Movement Disorders Clinical Practice|November 9, 2020
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar AtrophyLaurence Gauquelin, Taila Hartley, Mark Tarnopolsky, et al.
Veterinary Microbiology|December 13, 2024
Characterisation and comparison of Mycoplasma bovis strain types from Irish and Scottish bovine isolates in a global contextC I McAloon, D Farrell, J Smith, et al.
Orphanet Journal of Rare Diseases|November 28, 2012
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiencyHugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, et al.
Journal of Inherited Metabolic Disease|November 1, 2002
Phenylketonuria in adulthood: a collaborative studyR Koch, B Burton, G Hoganson, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiencyPatricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, et al.
Journal of Inherited Metabolic Disease|February 5, 2021
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiencyWillemijn J van Rijt, Johan L K Van Hove, Frédéric M Vaz, et al.
BMC Genetics|May 22, 2007
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1Wai-Man Chan, Caroline Andrews, Laryssa Dragan, et al.
American Journal of Medical Genetics. Part A|December 23, 2015
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplicationsSarah E Grams, Bob Argiropoulos, Matthew Lines, et al.
Blood|April 5, 2013
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)Daniel H Wiseman, Alison May, Stephen Jolles, et al.
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