Favorable long-term outcome of a patient with transcobalamin II deficiency [8]

Annals of Internal Medicine

Volumn 137, Issue 8, 2002, Pages 704-705

  Arlet, Jean Benoît ^a   Varet, Bruno ^a   Besson, Caroline ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COBALAMIN; CYANOCOBALAMIN; HAPTOCORRIN; TRANSCOBALAMIN II;

ADULT; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; HUMAN; LETTER; LEUKOCYTOSIS; MALE; PANCYTOPENIA; PRIORITY JOURNAL; PROTEIN DEFECT; RETICULOCYTOSIS; THROMBOCYTOSIS; TRANSCOBALAMIN II DEFICIENCY; TREATMENT OUTCOME;

EID: 0037108816     PISSN: 00034819     EISSN: None     Source Type: Journal    
DOI: 10.7326/0003-4819-137-8-200210150-00033     Document Type: Letter

References (5)

1. Hitzig WH, Dohmann U, Pluss HJ, Vischer D. Hereditary transcobalamin II defici¢ncy: clinical findings in a new family. J Pediatr. 1974;85:622-8. [PMID: 4138209]
2. Monagle PT, Tauro GP. Long-term follow up of patients with transcobalamin II deficiency. Arch Dis Child. 1995;72:237-8. [PMID: 7741573]
3. Hall CA. The neurologic aspects of transcobalamin II deficiency. Br J Haematol. 1992;80:117-20. [PMID: 1536799]
4. Thomas PK, Hoffbrand AV. Hereditary transcobalamin II deficiency: a 22 year follow up [Letter]. J Neurol Neurosurg Psychiatry, 1997;62:197. [PMID: 9048724]
5. Fenton WA, Rosenberg LE. Inherited disorders of cobalamin transport and metabolism. In: Scriver CR, Baudet AL, Sly WS, and Valley D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: Raven Pr; 1994:1997-2026.