Showing results (61-70 of 120) with videos related to
Sort By:
Pageof 12
American Journal of Diseases of Children (1960)|November 1, 1993
The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993R Koch, H L Levy, R Matalon, et al.Journal of Inherited Metabolic Disease|September 16, 2003
Danger of high-protein dietary supplements to persons with hyperphenylalaninaemiaR Koch, K D Moseley, R Moats, et al.The Journal of Pediatrics|January 1, 1993
Prospective management of a child with neonatal citrullinemiaA R Melnyk, R Matalon, B W Henry, et al.The Journal of Pediatrics|September 1, 1994
Maternal mild hyperphenylalaninemia: results of treated and untreated pregnancies in two sistersH L Levy, B S Goss, D K Sullivan, et al.The Journal of Biological Chemistry|August 24, 1999
MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiencyK A Sacksteder, J C Morrell, R J Wanders, et al.Journal of Inherited Metabolic Disease|January 1, 1984
Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalaminM L Batshaw, G H Thomas, S R Cohen, et al.Orphanet Journal of Rare Diseases|December 1, 2020
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control studyCan Ficicioglu, Dena R Matalon, Nicole Luongo, et al.Journal of Investigative Medicine High Impact Case Reports|May 31, 2022
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry SyndromeChristina G Tise, Dena R Matalon, Melanie A Manning, et al.Biochemical Medicine and Metabolic Biology|August 1, 1992
Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activityP S Hart, B O Barnstein, J R Secor McVoy, et al.Proceedings of the National Academy of Sciences of the United States of America|February 1, 1973
Cystic fibrosis: fractionation of fibroblast media demonstrating ciliary inhibitionB H Bowman, D R Barnett, R Matalon, et al.Pageof 12