C H Ko

Summary

Publications

  1. ncbi request reprint De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
    C H Ko
    Department of Paediatrics, Caritas Medical Centre, Hong Kong, China
    J Paediatr Child Health 37:87-90. 2001
  2. ncbi request reprint Topiramate-induced metabolic acidosis: report of two cases
    C H Ko
    Department of Paediatrics, Caritas Medical Centre, Shamshuipo, Hong Kong
    Dev Med Child Neurol 43:701-4. 2001
  3. ncbi request reprint Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis
    C H Ko
    Department of Pediatrics, Caritas Medical Centre, Hong Kong, People's Republic of China
    Pediatr Neurol 24:225-7. 2001
  4. ncbi request reprint Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness
    C K Kong
    Department of Paediatrics, Caritas Medical Centre, Hong Kong, China
    Neurology 57:1121-4. 2001
  5. ncbi request reprint Valproic acid and thrombocytopenia: cross-sectional study
    C H Ko
    Developmental Disabilities Unit, Department of Paediatrics, Caritas Medical Centre, 111 Wing Hong Street, Shamshuipo, Hong Kong
    Hong Kong Med J 7:15-21. 2001
  6. ncbi request reprint Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong
    W K L Yam
    Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Tai Po, Hong Kong
    Hong Kong Med J 10:53-6. 2004
  7. pmc Trinucleotide insertions, deletions, and point mutations in glucose transporters confer K+ uptake in Saccharomyces cerevisiae
    H Liang
    Department of Biochemistry, Molecular Biology and Cell Biology, Northwestern University, Evanston, Illinois 60208, USA
    Mol Cell Biol 18:926-35. 1998
  8. ncbi request reprint Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis
    C W Lam
    Am J Med Genet 99:161-3. 2001
  9. ncbi request reprint Clinical efficacy of proton pump inhibitor therapy in neurologically impaired children with gastroesophageal reflux: prospective study
    K M Cheung
    Department of Paediatrics, Caritas Medical Centre, 111 Wing Hong Street, Shamshuipo, Kowloon, Hong Kong
    Hong Kong Med J 7:356-9. 2001

Collaborators

Detail Information

Publications9

  1. ncbi request reprint De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
    C H Ko
    Department of Paediatrics, Caritas Medical Centre, Hong Kong, China
    J Paediatr Child Health 37:87-90. 2001
    ..The absence of ragged red fibres in muscle biopsy did not preclude the diagnosis. Mutational analysis of mitochondrial DNA conveniently confirmed the diagnosis of the disorder. A de novo mutation is demonstrated in this family...
  2. ncbi request reprint Topiramate-induced metabolic acidosis: report of two cases
    C H Ko
    Department of Paediatrics, Caritas Medical Centre, Shamshuipo, Hong Kong
    Dev Med Child Neurol 43:701-4. 2001
    ..The occurrence of hyperpnoea or mental status change in any patient who is on TPM should prompt an urgent blood gas sampling, with correction of the acid-base disturbances accordingly...
  3. ncbi request reprint Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis
    C H Ko
    Department of Pediatrics, Caritas Medical Centre, Hong Kong, People's Republic of China
    Pediatr Neurol 24:225-7. 2001
    ..Our findings provide evidence that hyperactivity of the basal ganglia is associated with the dyskinetic attacks in paroxysmal kinesigenic choreoathetosis...
  4. ncbi request reprint Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness
    C K Kong
    Department of Paediatrics, Caritas Medical Centre, Hong Kong, China
    Neurology 57:1121-4. 2001
    ..He had a point mutation of the GTP cyclohydrolase I gene. The patient's father and sister had the same mutation but did not have proximal weakness. GTP cyclohydrolase I deficiency can present with hypotonia and weakness...
  5. ncbi request reprint Valproic acid and thrombocytopenia: cross-sectional study
    C H Ko
    Developmental Disabilities Unit, Department of Paediatrics, Caritas Medical Centre, 111 Wing Hong Street, Shamshuipo, Hong Kong
    Hong Kong Med J 7:15-21. 2001
    ..The platelet count should be monitored for patients receiving a high concentration of valproic acid who are also receiving drugs that would affect homeostasis, or who are undergoing surgical procedures...
  6. ncbi request reprint Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong
    W K L Yam
    Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Tai Po, Hong Kong
    Hong Kong Med J 10:53-6. 2004
    ....
  7. pmc Trinucleotide insertions, deletions, and point mutations in glucose transporters confer K+ uptake in Saccharomyces cerevisiae
    H Liang
    Department of Biochemistry, Molecular Biology and Cell Biology, Northwestern University, Evanston, Illinois 60208, USA
    Mol Cell Biol 18:926-35. 1998
    ..The nature of the insertions and deletions revealed a striking DNA template dependency: each insertion generated a trinucleotide repeat, and each deletion involved the removal of a repeated nucleotide sequence...
  8. ncbi request reprint Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis
    C W Lam
    Am J Med Genet 99:161-3. 2001
  9. ncbi request reprint Clinical efficacy of proton pump inhibitor therapy in neurologically impaired children with gastroesophageal reflux: prospective study
    K M Cheung
    Department of Paediatrics, Caritas Medical Centre, 111 Wing Hong Street, Shamshuipo, Kowloon, Hong Kong
    Hong Kong Med J 7:356-9. 2001
    ..05). No significant decrease in gastrointestinal bleeding or chest infection was observed. CONCLUSION: Proton pump inhibitors significantly reduced vomiting episodes in neurologically impaired children with gastroesophageal reflux...