Search Results - "Mei Chan, Yan"
-
1
Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene
Published in Clinical genetics (01-02-2024)“…A novel homozygous variant in KIFBP was identified in a consanguineous family with four sibs affected by Goldberg-Sphrintzen Syndrome (GOSHS). We report for…”
Get full text
Journal Article -
2
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
Published in Orphanet journal of rare diseases (04-08-2023)“…Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in…”
Get full text
Journal Article -
3
Improving Sleep with Far-Infrared-Emitting Pajamas: A Pilot Randomized Controlled Trial
Published in International journal of environmental research and public health (22-02-2023)“…Far infrared (FIR)-based clothing may alleviate sleep disturbance. This study aimed to explore the effects of FIR-emitting pajamas on sleep quality. This was a…”
Get full text
Journal Article -
4
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series
Published in Molecular genetics and metabolism reports (01-09-2023)“…Mucopolysaccharidosis (MPS) type II (Hunter syndrome) is a rare X-linked, recessive, lysosomal storage disorder caused by the deficit of the enzyme iduronate…”
Get full text
Journal Article -
5
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family
Published in Brain sciences (01-10-2021)“…Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer’s disease (EOAD). Recently, emerging studies have reported several novel PSEN1…”
Get full text
Journal Article -
6
Case report: Ghosal hematodiaphyseal dysplasia—A rare cause of skeletal dysplasia and cytopenia
Published in International journal of rheumatic diseases (01-06-2024)Get full text
Journal Article -
7
Adjunctive berberine reduces antipsychotic‐associated weight gain and metabolic syndrome in patients with schizophrenia: a randomized controlled trial
Published in Psychiatry and clinical neurosciences (01-03-2022)“…Aim The aim of this study was to evaluate the efficacy and safety of berberine as an adjuvant in treating antipsychotic‐associated weight gain and metabolic…”
Get full text
Journal Article -
8
Transcutaneous Electrical Cranial-Auricular Acupoint Stimulation vs. Escitalopram for Patients With Mild-to-Moderate Depression (TECAS): Study Design for a Randomized Controlled, Non-inferiority Trial
Published in Frontiers in psychiatry (10-05-2022)“…Previous studies in animals and humans indicated that transcutaneous vagus nerve stimulation (tVNS) and transcutaneous electrical acupoint stimulation (TEAS)…”
Get full text
Journal Article -
9
The RNA-Binding Site of Poliovirus 3C Protein Doubles as a Phosphoinositide-Binding Domain
Published in Structure (London) (05-12-2017)“…Some viruses use phosphatidylinositol phosphate (PIP) to mark membranes used for genome replication or virion assembly. PIP-binding motifs of cellular proteins…”
Get full text
Journal Article -
10
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
Published in Genetics in medicine (01-12-2022)“…Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been…”
Get full text
Journal Article -
11
FROM “EXPLORING THE MIDDLE ZONE” TO “CONSTRUCTING A BRIDGE”: EXPERIMENTING IN THE SPIRAL BIANSHI MATHEMATICS CURRICULUM
Published in International journal of science and mathematics education (01-04-2009)“…The spiral bianshi curriculum, an improvement on bianshi teaching developed by Gu ( 2000 ) and in line with Marton’s theory of variation (Marton & Booth, 1997…”
Get full text
Journal Article -
12
Implementing and Evaluating Mentored Chemistry−Biology Technology Lab Modules To Promote Early Interest in Science
Published in Journal of chemical education (01-06-2011)“…Chemistry has become increasingly multidisciplinary. Starting in middle school and high school, however, the different disciplines are taught as distinct…”
Get full text
Journal Article -
13
Chemical Synthesis of a Bisphosphorylated Mannose-6-Phosphate N-Glycan and its Facile Monoconjugation with Human Carbonic Anhydrase II for in vivo Fluorescence Imaging
Published in Chembiochem : a European journal of chemical biology (21-03-2011)“…Red‐ily made: The first chemical synthesis of a fully elaborated bisphosphorylated triantennary M6P N‐glycan was achieved through a highly efficient late‐stage…”
Get full text
Journal Article -
14
On the Role of Protein 3CD in Formation of the Poliovirus Replication Organelle
Published in Biophysical journal (29-01-2013)Get full text
Journal Article -
15
Characterization and identification of the protein partners of Fn3 domain in FnTm2
Published in Protein expression and purification (01-01-2012)“…► Expression and purified of mammalian Fn3 protein domain with multiple disulfide bonds in a prokaryotic system. ► Fn3 domain refolding protocol and secondary…”
Get full text
Journal Article -
16
-
17
-
18
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family
Published in Brain sciences (08-10-2021)Get full text
Report