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The Journal of Biological Chemistry|September 3, 1998
A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activationD R Warner, G Weng, S Yu, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 4, 2000
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan diseaseP L Rady, J M Penzien, T Vargas, et al.
Journal of Investigative Medicine High Impact Case Reports|February 8, 2023
Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic DisorderChristina G Tise, Melinda J Palma, Kristina P Cusmano-Ozog, et al.
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.
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