Cooper BA, Rosenblatt DS: Inherited defects of vitamin B12 metabolism. Ann Rev Nutr1987;7:291-320.
2.
Grasbeck R., Gordin R., Kantero I., Kuhlbäck B.: Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome . Acta Med Scand1960;167:289-296.
3.
Imerslund O. : Idiopathic chronic megaloblastic anemia in children. Acta Paediatr Suppl1960;119:1-115.
4.
Tuchman M., Kelly P., Watkins D., Rosenblatt DS: Vitamin B12responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cblE disease. J Pediatr1988;113: 1052-1056.
5.
Hall CA, Lindenbaum RH, Arenson E., et al: The nature of the defect in cobalamin G mutation. Clin Invest Med1989;12:262-269.
6.
Mudd SH, Uhlendorf BW, Freeman JM, et al: Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity. Biochem Biophys Res Commun1972;46:905-912.
7.
Hall CA: Function of vitamin B12 in the central nervous system as revealed by congenital defects. Am J Hematol1990;34:121-127.
8.
Rashed MS, Ozand PT, Harrison ME, et al: Electrospray tandem mass spectrometry in the diagnosis of organic acidemias. Rapid Commun Mass Spectrom1994 ;8:129-133.
9.
Rashed MS, Ozand PT, Bucknall MP, Little D.: Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry . Pediatr Res1996;38:324-331.
10.
Rashed MS, Bucknall MP, Little D., et al: Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem1997; 43:1129-1141.
11.
Rashed M., Ozand P., Al Shahwan S., et al: Diagnosis of sulfur amino acid metabolic abnormalities by automated electrospray MS/MS. Presented at 44th ASMS Conference on Mass Spectrometry and Allied Topics, Portland, Oregon , May 12-16, 1996.
12.
Broch H., Imerslund O., Monn E., et al: Imerslund-Grasbeck anemia. A long-term follow-up study. Acta Paediatr Scand1984;73: 248-253.
13.
Shevell MI, Rosenblatt DS: The neurology of cobalamin. Can J Neurol Sci1992;19:472-486.
14.
Surtees R.: Biochemical pathogenesis of subacute combined degeneration of the spinal cord and the brain. J Inherit Metab Dis1993;16:762-770.
15.
Flippo TS, Holder WD Jr: Neurologic degeneration associated with nitrous oxide anesthesia in patients with vitamin B12 deficiency. Arch Surg1993 ;128:1391-1395.
16.
Wolansky LJ , Goldstein G., Gozo A., et al: Subacute combined degeneration of the spinal cord: MRI detection of preferential involvement of posterior columns in a child. Pediatr Radiol1995; 25:140-141.
17.
Weir DG, Keating S., Molloy A., et al: Methylation deficiency causes vitamin B12-associated neuropathy in the pig. J Neurochem1988;51:1949-1952.
18.
Frenkel EP: Abnormal fatty acid metabolism in peripheral nerves of patients with pernicious anemia. Comp Biochem Physiol APhysiol1987 ;88:171-177.
19.
Pfohl-Leskowicz A., Keith G., Dirheimer G.: Effect of cobalamin derivatives on in-vitro enzymatic DNA-methylation: Methyl-cobalamin can act as a methyl donor. Biochemistry1991;30:8045-8051.
20.
Terheggen HG , Schwenk A., Lowenthal A., et al: Hyperargininamie mit arginasedefekt. Eine neue familiare StoffwechselstorungI. Klinische befunde. Zeitschr Kinderheilk-1970;107:298-312.