Research Topics
| P J MeikleSummaryAffiliation: University of Adelaide Country: Australia Publications
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Detail Information
Publications
Prevalence of lysosomal storage disordersP J Meikle
Department of Chemical Pathology, Women s and Children s Hospital, Adelaide, Australia
JAMA 281:249-54. 1999..To date, no comprehensive study has been performed on the prevalence of these disorders as a group...
Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic markerP J Meikle
Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
Clin Chem 43:1325-35. 1997..Overall, 72% of patients had LAMP-1 concentrations above the 95th percentile of the unpartitioned control population. We suggest that LAMP-1 may be a useful marker in newborn screening for LSDs...
Newborn screening for lysosomal storage disordersP J Meikle
Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
Southeast Asian J Trop Med Public Health 30:104-10. 1999....
Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe diseaseK Umapathysivam
Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women's and Children's Hospital, 72 King William Rd, North Adelaide, South Australia 5006, Australia
Clin Chem 47:1378-83. 2001..With further validation, this procedure could be adapted for use with blood spots collected in newborn-screening programs...
Mass spectrometry in the study of lysosomal storage disordersP J Meikle
Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006, Australia
Cell Mol Biol (Noisy-le-grand) 49:769-77. 2003..We will discuss progress in the field, limitations of current methods, and summarise issues relating to the diagnosis and treatment of some of the more prevalent lysosomal storage disorders...
