Disorders of the pentose phosphate pathway

Inborn Metabolic Diseases: Diagnosis and Treatment

Volumn , Issue , 2006, Pages 131-134

  Verhoeven, Nanda M ^a   Jakobs, Cornelis ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 35248842847     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-28785-8_8     Document Type: Chapter

References (4)

1. Huck J H J, Verhoeven NM, Struys EA et al (2004) Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet 74:745-51
2. Verhoeven NM, Huck JH, Roos B et al (2001) Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet 68:1086-1092
3. Verhoeven NM, Wallot M, Huck J H J et al (2005) A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis 28:169-179
4. Valayannopoulos V, Verhoeven N, Salomons GS et al (2005) Transaldolase deficiency: an inborn error of the pentose phosphate pathway associated with a severe phenotype and multiorgan involvement including hydrops foetalis, cutis laxa, hepatic failure and haemolytic anaemia. J Inherit Metab Dis 28:217