REFERENCES
- Jaeken J, Stibler H, Hagberg B, editors. The carobohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr Scand Suppl 1991; 375: 1–71.
- Hagberg B, Blennow G, Kristiansson B, Stibler H. Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol 1993; 9: 255–62.
- Jaeken J, Carchon H, Stibler H. The carbo-hydrate-deficient glycoprotein syndromes: pre-Golgi or Golgi disorders? Glycobiology 1993; 3: 423–8.
- Stibler H, Westerberg B, Hanefeld F, Hagberg B. Carbohydrate-deficient glycoprotein (CD G) syndrome—a new variant type III Neuropediat-rics 1993; 24: 51–2.
- Stibler H, Stephani U, Kutsch U. Carbohydrate-deficient glycoprotein syndrome—a fourth sub-type. Neuropediatrics 1995; 26: 235–7.
- Hagberg B, Blennow G, Kristiansson B, Stibler H. Carbohydrate-deficient glycoprotein syndromes. In: Moser HW, editor. Handbook of clinical neurology, neurodystrophies and neurolipidoses. Amsterdam: Elsevier Science By, 1996; 22: 623–37.
- Stibler H, Blennow G, Kristiansson B, Lindehammar H, Hagberg B. Carbohydrate-deficient glycoprotein syndrome: clinical expres-sion in adults with a new metabolic disease. J Neurol Neurosurg Psychiatry 1994; 57: 552–6.
- Martinsson T, Björsell C, Stibler H, et al. Linkage of a locus for CDGS I (CDG I) to chromosome 16p, and linkage disequilibrium to microsatellite marker D165406. Hum Mol Gen 1994; 3: 2037–42.
- Bjursell C, Stibler H, Wahlström J, Kristiansson B, Skovby F, StrOmme P, et al. Fine mapping of the gene for CDGS I (CDGS I): linkage disequilib-rium and founder effect in Scandinavian families. Genomics 1997; 39: 247–53.
- Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, von Schaftingen E. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nature Genetics 1997; 16: 88–92.
- Van Schaftingen E, Jaeken J. Phosphomanno-mutase deficiency is a cause of CDGS I FEBS Lett 1995; 377: 318–20.
- Stibler H, Jaeken J, Kristiansson B. Biochemical characteristics and diagnosis of carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 1991; 375: 21–31.
- Krasnewich D, Holt G, Brandy M, Skovby F, Redwine J, Gahl W. Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome. Glycobiology 1995; 5: 503–10.
- Macchia P, Harrison H, Scherberg N, Sunthornthevarakul T, Jaeken J, Refetoff S. Thyroid function tests and characterization of thyroxine-binding globulin in the CDGS I J Clin Endocrinol Metab 1995; 80: 3744–9.
- Holzbach U, Hanefeld F. Das klinische Spektrum des CDG-Syndroms. In: Rating D, editor. Aktuelle Neuropädiatrie. Ciba-Geigy Verlag, 1994: 113–21.
- Stibler H, Cederberg B. Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots. Acta Paediatr 1993; 82: 55–9.
- Stibler H, Holzbach U, Tengborn L, Kristiansson B. Complex functional and structural coagulation abnormalities in the CDGS I Blood Coag Fibrinol 1996; 7: 118–26.
- Okamoto N, Wada Y, Kobayashi M, Otani K, Tagawa T, Futagi Y, et al. Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome. I Inher Metab Dis 1993; 16: 435–40.
- Gitlin D, Gitlin J. Fetal and neonatal development of human plasma proteins. In: Putnam F, editor. The plasma proteins. New York: Academic Press, 1975; II: 236–319.
- Hathaway W, Neumann L, Borden C, Jacobson L. Immunologic studies of antithrombin III heparin cofactor in the newborn. Thromb Hemos 1978; 39: 624–30.
- Stibler H. Carbohydrate-deficient transferrin in serum—a new marker of potentially harmful alcohol consumption. Clin Chem 1991; 37:2029–37.
- Jaeken J, Carchon H. The carbohydrate-deficient glycoprotein syndromes: an overview. J Inher Metab Dis 1993; 16: 813–20.
- Harrison H, Miller K, Harbison M, Slonim A. Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis? Clin Chem 1992; 38: 1390–2.
- Ohno K, Yuasa I, Akaboshi S, Itoh M, Yoshida K, Ehara H, et al. The carbohydrate-deficient glyco-protein syndrome in three Japanese children. Brain Dev 1992; 14: 30–5.
- Clayton P, Winchester B, Di Tomaso E, Young E, Keir G, Rodeck C. Carbohydrate-deficient glyco-protein syndrome: normal glycosylation in the fetus. Lancet 1993; 341: 956.
- Yuasa I, Ohno K, Hashimoto K, Iijima K, Yamashita K, Takeshita K. Carbohydrate-deficient glycoprotein syndrome: electrophoretic study of multiple serum glycoproteins. Brain Dev 1995; 17: 13–9.
- Franzen LE, Svensson S, Larm 0. Structural studies on the carbohydrate portion of human antithrombin III J Bio Chem 1980; 255: 5090–3.
- Mink I, Bailey T, Gustafson T, Markham B, Morkin E. Complete amino acid sequence of human thyroxine-binding globulin deduced from cloned DNA: close homology to the serine anti-proteases. Proc Natl Acad Sci (USA) 1986; 83: 7708–12.
- Stibler H, Skovby F. Failure to diagnose carbo-hydrate-deficient glycoprotein syndrome prena-tally. Pediatr Neurol 1994; 11: 71.
- Wada Y, Nishikawa A, Okamoto N, Inui K, Tsukamoto H, Okada S, Taniguchi N. Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. Biochem Biophys Res Commun 1992; 189: 832–6.
- Gu J, Kondo A, Okamoto N, Wada Y. Oligo-saccharide structures of immunoglobulin G from two patients with carbohydrate-deficient glyco-protein syndrome. Glycosylation Dis 1994; 1: 247–52.
- Spik G, Bayard B, Fournet B, Strecker G, Bouchelet S, Montreuil J. Studies on glyco-conjugates LXIV Complete structure of two carbohydrate units of human serotransferrin. FEBS Lett 1975; 50: 296–9.
- Mega T, Lujan E, Yoshida A. Studies on the oligosaccharide chains of human ai-1 protease inhibitor II Structure of oligosaccharides. J Biol Chem 1980; 256: 4057–61.