Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes

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Journal of Inherited Metabolic Disease, Vol. 35, Iss. 1, 2012-01 ,pp. : 103-114

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An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury

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European Journal of Pediatrics, Vol. 163, Iss. 7, 2004-07 ,pp. : 420-421

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CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

By Vilaseca M.   Vilarinho L.   Zavadakova P.   Vela E.   Cleto E.   Pineda M.   Coimbra E.   Suormala T.   Fowler B.   Kozich V.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 4, 2003-06 ,pp. : 361-369

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Management of methylmalonic acidaemia by combined liver–kidney transplantation

By Nagarajan S.   Enns G.   Millan M.   Winter S.   Sarwal M.  

Journal of Inherited Metabolic Disease, Vol. 28, Iss. 4, 2005-06 ,pp. : 517-524

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Hydroxocobalamin dose escalation improves metabolic control in cblC

By Carrillo-Carrasco N.   Sloan J.   Valle D.   Hamosh A.   Venditti C.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 6, 2009-12 ,pp. : 728-731

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