Search Results - "Wu, Loo Ling"
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Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family
Published in Orphanet journal of rare diseases (21-02-2017)“…Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we…”
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Health-related quality of life of female patients with congenital adrenal hyperplasia in Malaysia
Published in Health and quality of life outcomes (01-08-2020)“…Abstract Background This study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in…”
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3
Clinical Features of Girls with Turner Syndrome in a Single Centre in Malaysia
Published in Journal of the ASEAN Federation of Endocrine Societies (2019)“…Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our…”
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Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes
Published in Frontiers in pediatrics (17-04-2019)“…Girls born with congenital adrenal hyperplasia have virilized external genitalia. There is considerable debate regarding both the outcomes of feminizing…”
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5
Persistent neonatal hypoglycaemia as a result of hypoplastic pituitary gland
Published in British journal of hospital medicine (London, England : 2005) (01-06-2006)“…An Indonesian female infant developed hypoglycaemia shortly after delivery by lower segment caesarean section. Following admission to the neonatal intensive…”
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6
Turner Syndrome with Ring X Chromosome: Do They Have a Distinct Phenotype?
Published in International medical journal Malaysia (05-11-2020)“…In contrast to classic Turner syndrome, Turner patients with ring X chromosome are associated with distinct dysmorphism and are likely to be mentally impaired…”
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7
Vitamin D deficiency in pregnancy at term: risk factors and pregnancy outcomes
Published in Hormone molecular biology and clinical investigation (26-05-2017)“…Background Vitamin D deficiency during pregnancy is a worldwide epidemic. The aim of this study was to determine the prevalence of vitamin D deficiency, its…”
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8
Case series of testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: A single centre experience
Published in Medical journal of Malaysia (01-02-2019)“…Testicular adrenal rest tumours (TART) are aberrant adrenal tissue within the testes (1). Although benign, they can lead to obstruction of the seminiferous…”
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Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome
Published in Singapore medical journal (01-07-2012)“…Neonatal diabetes mellitus (DM) is defined as insulin-requiring DM in the first six months of life. Unlike type 1 DM, it is a monogenic disorder resulting from…”
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10
Transition care readiness among patients in a tertiary paediatric department
Published in Medical journal of Malaysia (01-12-2018)“…A smooth transition of healthcare for young people with chronic illnesses from paediatric to adult healthcare services is important to ensure optimal outcome…”
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Episodic vomiting and headache in children: consider occipital epilepsy
Published in Journal of paediatrics and child health (01-04-2010)“…Children with occipital seizures often have ictal autonomic symptoms such as pallor and vomiting and lack motor manifestations. This has lead to misdiagnosis…”
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Diabetic ketoacidosis at diagnosis of type 1 diabetes mellitus in Malaysian children and adolescents
Published in Malaysian family physician (31-12-2015)“…Type 1 diabetes mellitus (DM) accounts for more than 90% of childhood and adolescent diabetes. Of the estimated 479,600 type 1 diabetic children worldwide, 24%…”
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Episodic vomiting and headache in children: consider occipital epilepsy
Published in Journal of Paediatrics and Child Health (01-04-2010)Get full text
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