C J Hendriksz

Summary

Affiliation: Manchester Royal Infirmary
Country: UK

Publications

  1. pmc Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
    C 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
  2. ncbi Homozygous hypercholesterolaemia and ezetimibe: a case report
    C J Hendriksz
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Pendlebury, Manchester M27 4HA, UK
    Acta Paediatr 93:280-2. 2004
  3. ncbi Juvenile Sandhoff disease--nine new cases and a review of the literature
    C J Hendriksz
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Pendlebury, Manchester, UK
    J Inherit Metab Dis 27:241-9. 2004
  4. ncbi Feeding infants with undiluted goat's milk can mimic tyrosinaemia type 1
    C J Hendriksz
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester M27 4HA, UK
    Acta Paediatr 93:552-3. 2004
  5. ncbi Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation
    C J Hendriksz
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester M27 4HA, UK
    J Inherit Metab Dis 27:685-6. 2004

Detail Information

Publications5

  1. pmc Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
    C 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...
  2. ncbi Homozygous hypercholesterolaemia and ezetimibe: a case report
    C J Hendriksz
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Pendlebury, Manchester M27 4HA, UK
    Acta Paediatr 93:280-2. 2004
    ..A further reduction of 26% in total cholesterol and 37% in low-density lipoprotein (LDL) was achieved by adding ezetimibe to the treatment...
  3. ncbi Juvenile Sandhoff disease--nine new cases and a review of the literature
    C 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...
  4. ncbi Feeding infants with undiluted goat's milk can mimic tyrosinaemia type 1
    C J Hendriksz
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester M27 4HA, UK
    Acta Paediatr 93:552-3. 2004
    ..Undiluted goats milk should not be given to infants. High protein infant feeds are a forgotten cause of metabolic acidosis...
  5. ncbi Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation
    C 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...