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Keywords: Mental retardation
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Journal Articles
Congenital Methemoglobinemia due to Diaphorase Deficiency
Available to Purchase
Journal:
Acta Haematologica
Acta Haematol (1972) 47 (3): 175–181.
Published Online: 05 March 2009
...S. Özsoylu A case of congenital methemoglobinemia due to diaphorase deficiency is presented. Recessive inheritance of this disorder was documented by a family study. In addition to congenital methemoglobinemia, the propositus was mentally retarded. Although his mother and a sibling were mentally...
Journal Articles
Defective Maturation of Granulocytes, Retinal Cysts and Multiple Skeletal Malformations in a Mentally Retarded Girl: A New Syndrome
Available to Purchase
Journal:
Acta Haematologica
Acta Haematol (1978) 59 (1): 53–63.
Published Online: 03 March 2009
..., severe physical and mental retardation and monolobed neutrophil granulocytes is reported. A similar clinical picture has not previously been described. We assume that the patient suffers from a sublethal genetic disorder. 10 02 1977 20 06 1977 3 3 2009 © 1978 S. Karger AG, Basel...
Journal Articles
Congenital Methemoglobin- Reductase (Cytochrome b 5 Reductase) Deficiency Associated with Mental Retardation in a Spanish Girl
Available to Purchase
Journal:
Acta Haematologica
Acta Haematol (1978) 59 (6): 348–353.
Published Online: 03 March 2009
...J.L. Vives-Corrons; A. Pujades; E. Vela; J.M. Corretger; A. Leroux; J.C. Kaplan Methemoglobinemia and mental retardation associated with NADH-diaphorase deficiency was found in a 2-year-old girl of Spanish origin. She showed no NADH-diaphorase activity in either erythrocytes or leukocytes...
