Immunological problems

Inherited Metabolic Diseases: A Clinical Approach

Volumn , Issue , 2010, Pages 243-248

  Mayatepek, Ertan ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84861218571     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-74723-9_26     Document Type: Chapter

References (10)

1. Carapella-de Lacua E, Aiuti F, Lucarelli P et al (1975) A patient with nucleoside phosporylaswe deficiency, selective T-cell deficiency and autoimmune hemolytic anemia. J Pediatr 93:1000-1003
2. Cowan MJ, Wara DW, Packman S et al (1979) Multiple biotindependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet 2:115-118
3. Desnick RJ, Sharp HL, Grabowski GA et al (1976) Mannosidosis: clinical, morphologic, immunologic, and biochemical studies. Pediatr Res 10:985-996
4. Dionisi-Vici C, de Felice L, el Hachem M et al (1998) Intravenous immunoglobulin in lysinuric protein intolerance. J Inherit Metab Dis 21:95-102
5. Gitzelmann R, Bosshard WU (1993) Defective neutrophil and monocyte function in glycogen storage disease type Ib: a literature review. Eur J Pediatr 152:33S-38S
6. Hirschhorn R (1993) Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Pediatr Res 33:35S-41S
7. Houten SM, Kuis W, Duran M et al (1999) Muations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nature Genet 22:175-177
8. Kobayashi R, Blum P, Gard S et al (1980) Granulocyte function in patients with galactose-1-phosphate uridyl transferase deficiency (galactosemia). Clin Res 28:109A
9. Ming JE, Stiehm ER, Graham JM Jr (2003) Syndromic immunodeficienies: genetic syndromes associated with immune abnormalities. Crit Rev Clin Lab Sci 40:587-642
10. Spielberg SP, Boxer LA, Oliver JM et al (1979) Oxidative damage to neutrophils in glutathione synthetase deficiency. Br J Haematol 42:215-223