Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.

Autor: Chan MY; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health Malaysia, Jalan Pahang, 50586, Kuala Lumpur, Malaysia. mc.meiyan@gmail.com., Jalil JA; Unit of Biochemistry, Institute for Medical Research, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Yakob Y; Unit of Molecular Diagnostics, Specialised Diagnostics Centre, National Institutes of Health, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Wahab SAA; Unit of Molecular Diagnostics, Specialised Diagnostics Centre, National Institutes of Health, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Ali EZ; Unit of Inborn Errors of Metabolism and Genetic, Nutrition, Metabolism and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Khalid MKNM; Unit of Molecular Diagnostics, Specialised Diagnostics Centre, National Institutes of Health, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Leong HY; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health Malaysia, Jalan Pahang, 50586, Kuala Lumpur, Malaysia., Chew HB; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health Malaysia, Jalan Pahang, 50586, Kuala Lumpur, Malaysia., Sivabalakrishnan JB; Department of Pediatric Cardiology, Hospital Tunku Azizah, Ministry of Health Malaysia, Kuala Lumpur, Malaysia., Ngu LH; Department of Genetics, Hospital Kuala Lumpur, Ministry of Health Malaysia, Jalan Pahang, 50586, Kuala Lumpur, Malaysia.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 04; Vol. 18 (1), pp. 231. Date of Electronic Publication: 2023 Aug 04.