Browsing by Author Mitchell, John J.

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Issue DateTitleAuthor(s)Citation
2011Maternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172BCarpenter, Kevin; Christodoulou, John; Ho, Gladys; Peters, Gregory; Inui, Ken-Ichi; Masuda, Satohiro; Mitchell, John J.; Olsen, R. K. J.; Rhead, William; Sim, K. G.; Yonezawa, Atsushi; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMaternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172B, Human Mutation, vol.32, 1, 2011,pp E1976-E1984
2005Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experienceAlexander, Ian; Christodoulou, John; Ellaway, Carolyn; O'Grady, H; Wilcken, Bridget; Wiley, Veronica; Earl, John; Mitchell, John J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthTetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience, Molecular Genetics and Metabolism (2005), vol.86,(Suppl 1),2005,pp S81-S85