Journal Article

Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

B. Merinero, B. Pérez, C. Pérez-Cerdá, A. Rincón and L. R. Desviat, et al.

Journal of Inherited Metabolic Disease, 2008, Volume 31, Number 1, Pages 55-66

• Download PDF (415.9 KB)
• View HTML

Journal Article

The management and outcome of propionic and methylmalonic acidaemia

J. V. Leonard

Journal of Inherited Metabolic Disease, 1995, Volume 18, Number 4, Pages 430-434

• Download PDF (349.6 KB)

Journal Article

Neuropathology in cerebral lactic acidosis

C. W. Chow, R. D. Anderson and G. C. T. Kenny

Acta Neuropathologica, 1987, Volume 74, Number 4, Pages 393-396

• Download PDF (1.3 MB)

Journal Article

N-dicarboxylmonoglycines: Excretion in dicarboxylic acidurias and mode of formation

Ida H. Grøn, N. Gregersen and K. Rasmussen

Journal of Inherited Metabolic Disease, 1978, Volume 1, Number 3, Pages 109-110

• Download PDF (236.1 KB)

Journal Article

Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia

G. F. Hoffmann, D. H. Hunneman, C. Jakobs, E. Wilichowski and S. W. Eber, et al.

Journal of Inherited Metabolic Disease, 1990, Volume 13, Number 3, Pages 337-340

• Download PDF (319.7 KB)

Journal Article

Brain amino acid abnormalities in pyruvate carboxylase deficiency

T. L. Perry, J. C. Haworth and B. H. Robinson

Journal of Inherited Metabolic Disease, 1985, Volume 8, Number 2, Pages 63-66

• Download PDF (528.9 KB)

Journal Article

Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia

D. Blum, H. Dorchy, T. Mouraux, E. Vamos and Y. Mardens, et al.

Diabetologia, 1993, Volume 36, Number 4, Pages 352-357

• Download PDF (2.4 MB)
• View HTML

Journal Article

Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis

I. Tavares de Almeida, M. Duran, M. F. B. Silva, R. Portela and A. Cabral, et al.

Journal of Inherited Metabolic Disease, 1991, Volume 14, Number 2, Pages 259-262

• Download PDF (332.7 KB)