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Pitt, J, Carpenter, K, Wilcken, B, Boneh, A.
3‐Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl‐CoA dehydrogenase deficiency testing.
Journal of Inherited Metabolic Disease
25(2)
:
83 -88
2002
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Johnson, JL, Coyne, KE, Rajagopalan, KV, Van Hove, JLK, Mackay, M, Pitt, J, Boneh, A.
Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.
American Journal of Medical Genetics
104(2)
:
169 -173
2001
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Kelly, D, Boneh, A, Pitsch, S, Gold, H, Fietz, M, Nelson, P, Oliver.
Carbohydrate‐deficient glycoprotein syndrome 1b: A new answer to an old diagnostic dilemma.
Journal of Paediatrics and Child Health
37(5)
:
510 -512
2001
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Boneh, A, Auldist, AW, Francis, DEM, Casanelia, S, Warwick, L, Tiedemann, K.
Splenectomy in two siblings with G‐CSF‐dependent glycogen storage disease type Ib.
Journal of Inherited Metabolic Disease
24(3)
:
419 -422
2001
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Bouchard, L, Robert, M-F, Vinarov, D, Stanley, CA, Thompson, GN, Morris, A, Leonard, JV, Quant, P, Hsu, BYL, Boneh, A, et al.
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Clinical Course and Description of Causal Mutations in Two Patients.
Pediatric Research
49(3)
:
326 -331
2001
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