Article
Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine
C. Steen,
C. Steen
University Children's Hospital, Hamburg, Germany
Search for more papers by this author D. S. Rosenblatt,
D. S. Rosenblatt
Departments of Human Genetics, Medicine and Pediatrics, McGill University, Montreal, Quebec, Canada
Search for more papers by this author H. Scheying,
H. Scheying
Ev. Stiftung Alsterdorf, Hamburg, Germany
Search for more papers by this author H. C. Braeuer,
H. C. Braeuer
Ev. Stiftung Alsterdorf, Hamburg, Germany
Search for more papers by this author A. Kohlschütter,
A. Kohlschütter
University Children's Hospital, Hamburg, Germany
Search for more papers by this author
C. Steen,
C. Steen
University Children's Hospital, Hamburg, Germany
Search for more papers by this author D. S. Rosenblatt,
D. S. Rosenblatt
Departments of Human Genetics, Medicine and Pediatrics, McGill University, Montreal, Quebec, Canada
Search for more papers by this author H. Scheying,
H. Scheying
Ev. Stiftung Alsterdorf, Hamburg, Germany
Search for more papers by this author H. C. Braeuer,
H. C. Braeuer
Ev. Stiftung Alsterdorf, Hamburg, Germany
Search for more papers by this author A. Kohlschütter,
A. Kohlschütter
University Children's Hospital, Hamburg, Germany
Search for more papers by this author
First published: 01 September 1997
No abstract is available for this article.
REFERENCES
- 1Fenton WA, Rosenberg LE, Scriver CR, Beaudet AL, Sly WS, Valle D (1995) Inherited disorders of cobalamin transport and metabolism. In: The Metabolic and Molecular Bases of Inherited Disease, 7th edn.. New York: McGraw-Hill, 3129–3149.
- 2Rosenblatt DS, Cooper BA, Pottier A, Lue-Shing H, Matiaszuk N, Grauer K (1984) Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anaemia and homocystinuria due to a new defect in methionine biosynthesis. J Clin Invest, 74: 2149–2156.
- 3Watkins D, Rosenblatt DS (1989) Functional methionine synthase (cblE and cblG): clinical and biochemical heterogeneity. Am J Med Genet, 34: 427–434.
