Molybdenum cofactor deficiency: Clinical features in a Turkish patient
暂无分享,去创建一个
H. Per | S. Kumandas | O. Çağlayan | H. Gümüş | K. Ichida
[1] J. A. Arranz,et al. Molybdenum Cofactor Deficiency Presenting as Neonatal Hyperekplexia: A Clinical, Biochemical and Genetic Study , 2005, Neuropediatrics.
[2] Enrico Garattini,et al. The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. , 2005, Molecular genetics and metabolism.
[3] T. Coşkun,et al. Molybdenum Cofactor Deficiency Presenting With Severe Metabolic Acidosis and Intracranial Hemorrhage , 2005, Journal of child neurology.
[4] M. Durán,et al. Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport? , 1978, Journal of Inherited Metabolic Disease.
[5] J. Reiss,et al. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH , 2003, Human mutation.
[6] Jean L. Johnson. Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency , 2003, Prenatal diagnosis.
[7] K. Ichida. [Hereditary xanthinuria and molybdenum cofactor deficiency]. , 2003, Nihon rinsho. Japanese journal of clinical medicine.
[8] M. Yalaz,et al. Molybdenum cofactor deficiency associated with Dandy–Walker complex , 2001, Brain and Development.
[9] I. Saatci,et al. Molybdenum Cofactor Deficiency: Report of Three Cases Presenting as Hypoxic Ischemic Encephalopathy , 2001, Journal of child neurology.
[10] J. Reiss. Genetics of molybdenum cofactor deficiency. , 2000 .
[11] R. Robinson,et al. Molybdenum cofactor deficiency – phenotypic variability in a family with a late‐onset variant , 1998, Developmental medicine and child neurology.
[12] S. Wolpert,et al. CT and MR appearance of the brain in two children with molybdenum cofactor deficiency. , 1996, AJNR. American journal of neuroradiology.
[13] U. Bick,et al. Molybdenum-Cofactor Deficiency: CT and MR Findings , 1995, Neuropediatrics.
[14] L. Ment,et al. Short‐term response to dietary therapy in molybdenum cofactor deficiency , 1993, Annals of neurology.
[15] S. Goodman,et al. Molybdenum cofactor deficiency. , 1993, The Journal of pediatrics.