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Journal of Inherited Metabolic Disease|January 1, 1988
First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'L Poenaru, L Castelnau, A M Besançon, et al.Journal of Inherited Metabolic Disease|September 6, 2017
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trialMelanie B Gillingham, Stephen B Heitner, Julie Martin, et al.Journal of Inherited Metabolic Disease|January 1, 1986
Maternal phenylketonuriaR Koch, E G Friedman, E Wenz, et al.Journal of Inherited Metabolic Disease|January 1, 1986
Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiencyR Sartorio, R Carrozzo, L Corbo, et al.Journal of Inherited Metabolic Disease|January 1, 1986
A model for hyperphenylalaninaemia due to tetrahydrobiopterin deficiencyR G CottonJournal of Inherited Metabolic Disease|August 16, 2019
Detailed profile of cognitive dysfunction in children with aspartylglucosaminuriaElina Leena Harjunen, Minna Laine, Ritva Tikkanen, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Recent advances in cystic fibrosisM A McPhersonJournal of Inherited Metabolic Disease|August 18, 2019
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature reviewMona M Makhamreh, Naiga Cottingham, Carlos R Ferreira, et al.Journal of Inherited Metabolic Disease|October 7, 2019
Bone mineral density is within normal range in most adult phenylketonuria patientsCharlotte M A Lubout, Francisco Arrieta Blanco, Katarzyna Bartosiewicz, et al.Journal of Inherited Metabolic Disease|March 6, 2019
Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance ProgramPaul R Harmatz, Christina Lampe, Rossella Parini, et al.Pageof 429