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N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report
by
Selvanathan, Arthavan
,
Demetriou, Kalliope
,
Lynch, Matthew
,
Lipke, Michelle
,
Bursle, Carolyn
,
Elliott, Aoife
,
Inwood, Anita
,
Foyn, Leanne
,
McWhinney, Brett
,
Coman, David
,
McGill, Jim
Published in
JIMD reports
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Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease
by
Bursle, Carolyn
,
Yiu, Eppie M.
,
Yeung, Alison
,
Freeman, Jeremy L.
,
Stutterd, Chloe
,
Leventer, Richard J.
,
Vanderver, Adeline
,
Yaplito‐Lee, Joy
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COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis
by
Bursle, C.
,
Narendra, A.
,
Chuk, R.
,
Cardinal, J.
,
Justo, R.
,
Lewis, B.
,
Coman, D.
Published in
JIMD Reports, Volume 34
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DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion
by
Bursle, C.
,
Brown, D.
,
Cardinal, J.
,
Connor, F.
,
Calvert, S.
,
Coman, D.
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