Page 84 - IMR ANNUAL REPORT 2021: INSTITUTE FOR MEDICAL RESEARCH

IMR ANNUAL REPORT 2021 71

SDC Research

Principal
investigator /
No. Research Title NMRR Number
Co-principal
investigator

Biochemical and molecular
characterisation of multiple acyl- Dr Saraswathy A/P
1 NMRR-20-2315-53818
CoA dehydrogenase deficiency Apparow
(MADD)
Plasma Acylcarnitines Profiling
in Inborn errors of Metabolism Dr Azzah Hana Abu
2 NMRR-20-2341-53827 Yamin/ Dr Anasufiza
(IEM); Fatty acid oxidation Habib
disorders and organic acidurias
Application of whole
exome sequencing in the
identification of genetic causes
3 NMRR-21-1113-60254 Yusnita Yakob
for undiagnosed rare genetic
diseases in paediatric patients in
Malaysia

Biochemical and Molecular Dr Sofwatul CENTRE (SDC) SPECIALISED DIAGNOSTIC
4 Characterisation of Porphyrias in NMRR-21-1112-60265 Mukhtaroh Binti
Malaysia Nasohah
Arginase deficiency in Malaysian
5 NMRR-21-676-59550 Dr Anasufiza Habib
children
Carnitine-Acylcarnitine
Translocase and Carnitine
Palmitoyl Transferase 2
6 NMRR-21-612-58280 Dr Anasufiza Habib
deficiency; rare inherited
metabolic diseases in Malaysia- A
retrospective study
Establishment of MALDI-
TOF Mass Spectrometry NMRR ID-21-02426- Dr Nurul Izzati Binti
7 for Congenital Disorders
Glycosylation in Paediatric WU9 Hamzan
Samples

A Pilot Study for Newborn
8 Screening of Classical Congenital NMRR-21-1283-60298 Raja Hasyidah Raja
Bongsu
Adrenal Hyperplasia (CAH)
Molecular, Biochemical and
Clinical Characterisation of Siti Aishah Abdul
9 NMRR-21-02060-WNI
Thirteen Patients with Glycogen Wahab
Storage Disease 1a in Malaysia