Results 111 to 120 of about 394 (153)

Dodecyl creatine ester therapy: from promise to reality. [PDF]

Cell Mol Life Sci
Mabondzo A, van de Kamp J, Mercimek-Andrews S.   +2 more
europepmc   +1 more source

Coagulation abnormalities and vascular complications are common in PGM1-CDG. [PDF]

Mol Genet Metab
Radenkovic S, Bleukx S, Engelhardt N, Eklund E, Mercimek-Andrews S, Edmondson AC, Morava E.   +6 more
europepmc   +1 more source

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease. [PDF]

AJNR Am J Neuroradiol
Armangue T, Whitehead MT, Tonduti D, Farina L, Tavasoli AR, Vossough A, Bennett ML, Vaia Y, Bernard G, Salsano E, Mercimek-Andrews S, Waldman A, Vanderver A.   +12 more
europepmc   +1 more source

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome. [PDF]

Orphanet J Rare Dis
Ambrose A, Bahl S, Sharma S, Zhang D, Hung C, Jain-Ghai S, Chan A, Mercimek-Andrews S.   +7 more
europepmc   +1 more source

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. [PDF]

Mol Genet Metab
Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S.   +13 more
europepmc   +1 more source

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. [PDF]

Am J Intellect Dev Disabil, 2020
Farmer CA, Kaat AJ, Thurm A, Anselm I, Akshoomoff N, Bennett A, Berry L, Bruchey A, Barshop BA, Berry-Kravis E, Bianconi S, Cecil KM, Davis RJ, Ficicioglu C, Porter FD, Wainer A, Goin-Kochel RP, Leonczyk C, Guthrie W, Koeberl D, Love-Nichols J, Mamak E, Mercimek-Andrews S, Thomas RP, Spiridigliozzi GA, Sullivan N, Sutton VR, Udhnani MD, Waisbren SE, Miller JS.   +29 more
europepmc   +1 more source

Combination Therapy with Pyridoxine and Arginine Supplementations along with a Lysine-Restricted Diet in Individuals with Pyridoxine-Dependent Epilepsy: A Comprehensive Systematic Review. [PDF]

Curr Dev Nutr
Jafari A, Abbasi MM, Abbasi H, Rahnemayan S, Bakhshimoghaddam F, Doaei S.   +5 more
europepmc   +1 more source

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns. [PDF]

Front Genet
Lipiński P, Wójcicka-Kowalczyk K, Bogdańska A, Ehmke E, Pajdowska M, Skrzypek K, Charzewska A, Hoffman-Zacharska D.   +7 more
europepmc   +1 more source

Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement. [PDF]

Orphanet J Rare Dis
Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Angel K, Gentle J, Smith M, Offringa M, Butcher NJ, Campeau PM, Chakraborty P, Chan A, Fergusson D, Mamak E, McClelland P, Mercimek-Andrews S, Mhanni A, Moazin Z, Rockman-Greenberg C, Rupar CA, Skidmore B, Stockler S, Thavorn K, Wyatt A, Potter BK, INFORM RARE Network.   +25 more
europepmc   +1 more source

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta. [PDF]

Mol Genet Metab Rep
Almenabawy N, Bahl S, Ostlund AL, Ghai-Jain S, Sosova I, Chan A, Mercimek-Andrews S.   +6 more
europepmc   +1 more source