C J Hendriksz
Affiliation: Manchester Royal Infirmary
- Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannoseC J Hendriksz
Children's Liver and GI Unit, Department of Paediatrics, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK
Arch Dis Child 85:339-40. 2001..She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment...
- Homozygous hypercholesterolaemia and ezetimibe: a case reportC J Hendriksz
Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Pendlebury, Manchester M27 4HA, UK
Acta Paediatr 93:280-2. 2004..CONCLUSION: A case of homozygous hypercholesterolaemia is reported in order to highlight treatment options such as liver transplantation, LDL-aphaeresis and treatment with ezetimibe...
- Juvenile Sandhoff disease--nine new cases and a review of the literatureC J Hendriksz
Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Pendlebury, Manchester, UK
J Inherit Metab Dis 27:241-9. 2004..Diagnosis was on the basis of hexosaminidase deficiency. Residual enzyme activity did not correlate with the clinical picture. Emerging therapies make early diagnosis of this disorder important...
- Feeding infants with undiluted goat's milk can mimic tyrosinaemia type 1C J Hendriksz
Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester M27 4HA, UK
Acta Paediatr 93:552-3. 2004..High protein infant feeds are a forgotten cause of metabolic acidosis. CONCLUSION: The metabolic abnormalities associated with goat's milk ingestion can cause a clinical picture very similar to tyrosinaemia type 1...
- Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutationC J Hendriksz
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester M27 4HA, UK
J Inherit Metab Dis 27:685-6. 2004..The patient was treated by bone marrow transplantation at age 14 months. The patient became pregnant at age 21 years. Because of concerns about her own health, the patient opted for a termination...