Showing results (461-470 of 4,287) with videos related to
Sort By:
Pageof 429
Journal of Inherited Metabolic Disease|July 23, 2016
Lack of global epigenetic methylation defects in CBS deficient miceHyung-Ok Lee, Liqun Wang, Yin-Ming Kuo, et al.Journal of Inherited Metabolic Disease|April 13, 2020
Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosisChinmoy Sarkar, Tamal Sadhukhan, Maria B Bagh, et al.Journal of Inherited Metabolic Disease|May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patientsToni S Pearson, Laura Gilbert, Thomas Opladen, et al.Journal of Inherited Metabolic Disease|June 1, 2020
Emerging roles of autophagy in hepatic tumorigenesis and therapeutic strategies in glycogen storage disease type Ia: A reviewJun-Ho Cho, David A Weinstein, Young Mok LeeJournal of Inherited Metabolic Disease|January 1, 1992
Comparison of total cellular DNA, mRNA, and rRNA levels between normals and Down syndrome patientsC I McQuillan, K H ChooJournal of Inherited Metabolic Disease|January 1, 1992
DNA-based presymptomatic diagnosis of Wilson diseaseD Gaffney, J L Walker, J G O'Donnell, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiencyM Tuchman, S M Mauer, R A Holzknecht, et al.Journal of Inherited Metabolic Disease|February 24, 2001
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia IS Z Kim, K G Kupke, L Ierardi-Curto, et al.Journal of Inherited Metabolic Disease|February 24, 2001
Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutationA Chakrapani, S Olpin, M Cleary, et al.Journal of Inherited Metabolic Disease|February 24, 2001
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfallN M Verhoeven, W S Guérand, E A Struys, et al.Pageof 429