Search Results - "Wu, Loo Ling"

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  1. 1

    Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family by Chow, Yock-Ping, Abdul Murad, Nor Azian, Mohd Rani, Zamzureena, Khoo, Jia-Shiun, Chong, Pei-Sin, Wu, Loo-Ling, Jamal, Rahman

    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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    Journal Article
  2. 2

    Health-related quality of life of female patients with congenital adrenal hyperplasia in Malaysia by Zainuddin, Ani Amelia, Grover, Sonia Regina, Abdul Ghani, Nur Azurah, Wu, Loo Ling, Rasat, Rahmah, Abdul Manaf, Mohd. Rizal, Shamsuddin, Khadijah, Abdullah Mahdy, Zaleha

    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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    Journal Article
  3. 3

    Clinical Features of Girls with Turner Syndrome in a Single Centre in Malaysia by Lee, Yee Lin, Wu, Loo Ling

    “…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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  4. 4

    Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes by Zainuddin, Ani Amelia, Grover, Sonia Regina, Soon, Chong Hong, Nur Azurah, Abdul Ghani, Mahdy, Zaleha Abdullah, Wu, Loo Ling, Rasat, Rahmah, Harun, Fatimah, Chia, Wee Yan, Shamsuddin, Khadijah

    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. 5

    Persistent neonatal hypoglycaemia as a result of hypoplastic pituitary gland by Yong, Sin-Chuen, Boo, Nem-Yun, Wu, Loo-Ling

    “…An Indonesian female infant developed hypoglycaemia shortly after delivery by lower segment caesarean section. Following admission to the neonatal intensive…”
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    Journal Article
  6. 6

    Turner Syndrome with Ring X Chromosome: Do They Have a Distinct Phenotype? by Lee, Yee Lin, Shuib, Salwati, Wu, Loo Ling

    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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    Journal Article
  7. 7

    Vitamin D deficiency in pregnancy at term: risk factors and pregnancy outcomes by Lee, Chui Ling, Ng, Beng Kwang, Wu, Loo Ling, Cheah, Fook Choe, Othman, Hanita, Ismail, Nor Azlin Mohamed

    “…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. 8

    Case series of testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: A single centre experience by Karen Leong, S W, Wu, L L

    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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    Journal Article
  9. 9

    Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome by Ooi, Hooi Leng, Wu, Loo Ling

    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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    Journal Article
  10. 10

    Transition care readiness among patients in a tertiary paediatric department by Lau, S C, Azim, E, Abdul Latiff, Z, Syed Zakaria, S Z, Wong, S W, Wu, L L, Hong, S S, Alias, H, Loh, C K, Abdul Aziz, B, Rasat, R, Kanaheswari, Y

    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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    Journal Article
  11. 11

    Episodic vomiting and headache in children: consider occipital epilepsy by Lope, Raja Juanita Raja, Wong, Sau Wei, Wu, Loo Ling

    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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  12. 12

    Diabetic ketoacidosis at diagnosis of type 1 diabetes mellitus in Malaysian children and adolescents by Hong, J Y H, Jalaludin, M Y, Adam, Mohamad B, Fuziah, M Z, Wu, L L, Rasat, R, Fatimah, H, Premaa, S, Ponnudurai, U, Jamaiyah, H

    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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  13. 13