Disorders of sulfur amino acid metabolism

Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

Volumn , Issue , 2006, Pages 105-115

  Wilcken, Bridget ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 75749104612     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/3-540-28962-3_12     Document Type: Chapter

References (16)

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2. Rosenblatt DS, Fenton WA (2001) Inherited disorders of folate and cobalamin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3897-3934
3. Surtees R, Leonard J, Austin S (1991) Association of demyelination with deficiency of cerebrospinal-fluid S-Adenosylmethionine in inborn errors of methyl-transfer pathway. Lancet 338:1550-1554
4. Mudd SH, Glenn B, Wagner C (2003) S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency in a Croatian boy. J Inherit Metab Dis 26:15
5. YaghmaiR,KashaniAH,GeraghtyMTet al. (2002)Progressive cerebraledemaassociated with high methionine levels and betaine therapy in a patient with cystathionine betasynthase (CBS) deficiency. Am J Med Genet 108:57-63
6. Mudd SH,CeroneR, SchiaffinoMC,et al. (2001) GlycineN-methyltransferase deficiency: a novel error causing persistent isolated hypermethioninaemia. J Inherit Metab Dis 24:448-464
7. Yap S,Boers GH,WilckenB, et al. (2001a)Vascular outcomein patientswith homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. Arterioscler Thromb Vasc Biol 21:2080-2085
8. Wilcken DEL, Wilcken B, Dudman NPB, Tyrrell P (1983) Homocystinuria: the effects of betaine in the treatment of patients not responsive to pyridoxine. N Engl J Med 309:448-453
9. Yap S, Rushe H, Howard PM, Naughten ER (2001b) The intellectual abilities of earlytreatedindividualswith pyridoxine-nonresponsive homocystinuriadue to cystathionine beta-synthase deficiency. J Inherit Metab Dis 24:437-447
10. Wilcken DEL, Dudman NPB, Tyrrell PA (1985) Homocystinuria due to cystathionine beta-synthase deficiency: the effects of betaine treatment in pyridoxine-responsive patients. Metabolism 34:1115-1121
11. Touati G,RusthovenE,Depondt E, et al. (2000) Dietary therapy intwopatientswith a mild form of sulfite oxidase deficiency. Evidence for clinical and biological improvement. J Inherit Metab Dis 23:45-53
12. Fowler B (1998) Genetic defects of folate and cobalamin metabolism. Eur J Pediatr (suppl 2) 157:60-66
13. Bendeich A, Cohen M (1990) Vitamin B6 safety issues. Ann NY Acad Sci 585:321-330
14. Surtees R, Leonard J, Austin S (1991) Association of demyelination with deficiency of cerebrospinal-fluid S-Adenosylmethionine in inborn errors of methyl-transferase pathway. Lancet 338:1550-1554
15. Matthews A, Johnson TN, Rostami-Hodjegan A, et al. (2002) An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria. Br J Pharmacol 54:140-146
16. Pullin CH, Bonham JR,McDowell IF et al. (2002)Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria. J Inher Metab Dis 25:107-118