Showing results (1401-1410 of 4,288) with videos related to
Sort By:
Pageof 429
Journal of Inherited Metabolic Disease|May 9, 2000
Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activityM J Warburton, F BernardiniJournal of Inherited Metabolic Disease|October 13, 2001
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiencyS Yap, H Rushe, P M Howard, et al.Journal of Inherited Metabolic Disease|October 13, 2001
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complicationsC Van Geet, J Jaeken, K Freson, et al.Journal of Inherited Metabolic Disease|October 13, 2001
Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oilJ I Ruiz-Sanz, L Aldamiz-Echevarria, J Arrizabalaga, et al.Journal of Inherited Metabolic Disease|September 17, 2019
Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experienceAnaïs Brassier, Pauline Krug, Florence Lacaille, et al.Journal of Inherited Metabolic Disease|August 25, 2019
Central nervous system complications in adult cystinosis patientsAude Servais, Ana Saitovitch, Aurélie Hummel, et al.Journal of Inherited Metabolic Disease|January 1, 1988
alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorderO P van Diggelen, D Schindler, R Willemsen, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Pattern reversal visual evoked potentials in phenylketonuriaM Giovannini, R Valsasina, R Villani, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Prolidase deficiency: a patient without hydroxyproline-containing iminodipeptides in urineS J Wysocki, R Hahnel, T Mahoney, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Abetalipoproteinaemia in adults: role of vitamin therapyA J MacGilchrist, P R Mills, M Noble, et al.Pageof 429