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Journal of Inherited Metabolic Disease|January 1, 1990
The mechanisms of cataract formationC Schmitt, O Hockwin
Journal of Inherited Metabolic Disease|January 1, 1990
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiencyR J Desnick, A M Wang
Journal of Inherited Metabolic Disease|January 1, 1990
Displacement bone marrow transplantation for some inborn errorsJ R Hobbs
Journal of Inherited Metabolic Disease|January 14, 2011
Neonatal cholestasis: an uncommon presentation of hyperargininemiaEsmeralda Gomes Martins, Ermelinda Santos Silva, Silvia Vilarinho, et al.
Journal of Inherited Metabolic Disease|November 25, 2010
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327RAlev Hasanoglu, Manisha Balwani, Ciğdem S Kasapkara, et al.
Journal of Inherited Metabolic Disease|June 23, 2010
The homocysteine controversyYvo M Smulders, Henk J Blom
Journal of Inherited Metabolic Disease|June 23, 2010
A retrospective analysis of outcome of pregnancy in patients with acute porphyriaJoanne T Marsden, David C Rees
Journal of Inherited Metabolic Disease|December 17, 2010
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patientsHui Bein Chew, Lock Hock Ngu, Md Yunus Zabedah, et al.
Journal of Inherited Metabolic Disease|January 22, 2011
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H)Chris J Gardner, Nicola Robinson, Tim Meadows, et al.
Journal of Inherited Metabolic Disease|September 8, 2010
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-upMarcella Masciullo, Massimo Santoro, Anna Modoni, et al.
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