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Journal of Inherited Metabolic Disease|January 1, 1978
Cyclic adenosine monophosphate excretion in urine of patients and carriers of congenital nephrogenic diabetes insipidusW S Uttley, B Atkinson, A Adams, et al.Journal of Inherited Metabolic Disease|September 13, 2012
Comparative binding, endocytosis, and biodistribution of antibodies and antibody-coated carriers for targeted delivery of lysosomal enzymes to ICAM-1 versus transferrin receptorJason Papademetriou, Carmen Garnacho, Daniel Serrano, et al.Journal of Inherited Metabolic Disease|July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH geneLaura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.Journal of Inherited Metabolic Disease|August 13, 1998
mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathyE J Kirches, K Winkler, M Warich-Kirches, et al.Journal of Inherited Metabolic Disease|June 22, 2012
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experienceDaniel H Wiseman, Jean Mercer, Karen Tylee, et al.Journal of Inherited Metabolic Disease|June 22, 2012
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type BMelissa Wasserstein, James Godbold, Margaret M McGovernJournal of Inherited Metabolic Disease|June 22, 2012
Commentary: What degree of hyperphenylalaninaemia requires treatment?R J PollittJournal of Inherited Metabolic Disease|September 5, 1998
Holoprosencephaly: a paradigm for the complex genetics of brain developmentE Roessler, M MuenkeJournal of Inherited Metabolic Disease|September 5, 1998
Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione)E Holme, S LindstedtJournal of Inherited Metabolic Disease|August 1, 1998
The biochemical and molecular spectrum of ornithine transcarbamylase deficiencyM Tuchman, H Morizono, B S Rajagopal, et al.Pageof 429