Search Results - "Liew, Wendy"

Comparison of plasmapheresis and intravenous immunoglobulin as maintenance therapies for juvenile myasthenia gravis by Liew, Wendy K M, Powell, Christine A, Sloan, Steven R, Shamberger, Robert C, Weldon, Christopher B, Darras, Basil T, Kang, Peter B

“…Juvenile myasthenia gravis (MG) is a relatively rare autoimmune disorder. The comparative efficacy of plasmapheresis (PLEX) vs immunoglobulin as maintenance…”
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Teaching NeuroImages: Characteristic phenotype of Ullrich congenital muscular dystrophy by Liew, Wendy K.M, Darras, Basil T

“…A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy (figure). Genetic testing of collagen VI genes revealed a…”
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Update on juvenile myasthenia gravis by Liew, Wendy K M, Kang, Peter B

“…Juvenile myasthenia gravis is a relatively rare autoimmune neuromuscular disorder. The pathophysiology of juvenile myasthenia gravis is similar to that of…”
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Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents by Liew, Wendy K.M., MBChB, MRCPCH, Pacak, Christina A., PhD, Visyak, Nicole, MA, MS, Darras, Basil T., MD, Bousvaros, Athos, MD, MPH, Kang, Peter B., MD

“…Objective To characterize the longitudinal clinical and electrophysiological patterns of thalidomide neuropathy in children and adolescents. Study design…”
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Current advances in drug development in spinal muscular atrophy by Singh, Priyamvada, Liew, Wendy K M, Darras, Basil T

“…Spinal muscular atrophy (SMA) is a pediatric neuromuscular condition characterized by progressive proximal muscle weakness. It is one of the most common…”
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Teaching NeuroImages: Hypothalamic hamartoma and polydactyly: Think Pallister-Hall syndrome by Ler, Grace Yan Ling, Liew, Wendy Kein-Meng, Lim, Jocelyn, Lim, Jin Ying, Ong, Lin Yin, Tang, Phua Hwee, Low, David, Lim, Tchoyoson, Jamuar, Saumya Shekhar

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Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia by Liew, Wendy K M, Ben-Omran, Tawfeg, Darras, Basil T, Prabhu, Sanjay P, De Vivo, Darryl C, Vatta, Matteo, Yang, Yaping, Eng, Christine M, Chung, Wendy K

“…Ataxia in children is a diagnostic challenge. Besides the more common acquired causes of ataxia, there are more than 50 inherited disorders associated with…”
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Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders by Bylstra, Yasmin, Kuan, Jyn Ling, Lim, Weng Khong, Bhalshankar, Jaydutt Digambar, Teo, Jing Xian, Davila, Sonia, Te Teh, Bin an, Rozen, Steve, Tan, Ene-Choo, Liew, Wendy Kein Meng, Yeo, Khung Keong, Tan, Patrick, Saw, Seang Mei, Cheng, Ching-Yu, Cook, Stuart, Foo, Roger, Jamuar, Saumya Shekhar

“…Genomic studies have demonstrated the necessity of ethnicity-specific population data to ascertain variant pathogenicity for disease diagnosis and treatment…”
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Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management by Bhatia, Neha S, Lim, Jiin Ying, Bonnard, Carine, Kuan, Jyn-Ling, Brett, Maggie, Wei, Heming, Cham, Breana, Chin, Huilin, Bosso-Lefevre, Celia, Dharuman, Perumal, Escande-Beillard, Nathalie, Devasia, Arun George, Goh, Chew Yin Jasmine, Kam, Sylvia, Liew, Wendy Kein-Meng, Liew, Woei Kang, Lin, Grace, Jain, Kanika, Ng, Alvin Yu-Jin, Subramanian, Deepa, Xie, Min, Tan, Yuen-Ming, Tawari, Nilesh R, Tiang, Zenia, Ting, Teck Wah, Tohari, Sumanty, Tong, Cheuk Ka, Lezhava, Alexander, Ng, Sarah B, Law, Hai Yang, Venkatesh, Byrappa, Tomar, Swati, Sethi, Raman, Tan, Grace, Shanmugasundaram, Arthi, Goh, Denise Li-Meng, Lai, Poh San, Lai, Angeline, Tan, Ee Shien, Ng, Ivy, Reversades, Bruno, Tan, Ene Choo, Foo, Roger, Jamuar, Saumya Shekhar

“…ObjectiveUse next-generation sequencing (NGS) technology to improve our diagnostic yield in patients with suspected genetic disorders in the Asian…”
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Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld–Rieger syndrome: case report and review of literature by Hong, Ashley Shuen Ying, Lim, Jiin Ying, Isa, Mas Suhaila, Liew, Wendy Kein-Meng, Tan, Barrie, Ho, Ching Lin, Leo, Seo Wei, Jamuar, Saumya Shekhar

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Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome May Have a Hypothalamus–Periaqueductal Gray Localization by Chow, Cristelle, MBBS, MRCPCH, MMed (Paeds), Fortier, Marielle Valerie, MD, FRCPC, Das, Lena, MD, FAAP, Menon, Anuradha P., MBBS, MRCPCH, MMed (Paeds), Vasanwala, Rashida, MBBS, MRCPCH, MD (Paeds), Lam, Joyce C.M., MBBS, MRCPCH, MMed (Paeds), Ng, Zhi Min, MBBS, MRCPCH, MMed (Paeds), Ling, Simon Robert, MBBS, FRACP, Chan, Derrick W.S., BMBS, MRCPCH, Choong, Chew Thye, MBBS, MMed (Paeds), Liew, Wendy K.M., MBChB, MRCPCH, Thomas, Terrence, MD, MRCPCH

“…Abstract Background Anatomical localization of the rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD)…”
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Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy by Liew, Wendy K. M., Kang, Peter B.

“…Pediatric neuromuscular disorders comprise a large variety of disorders that can be classified based on their neuroanatomical localization, patterns of…”
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KCNK9 imprinting syndrome-further delineation of a possible treatable disorder by Graham Jr, John M., Zadeh, Neda, Kelley, Melissa, Tan, Ee Shien, Liew, Wendy, Tan, Victoria, Deardorff, Matthew A., Wilson, Golder N., Sagi-Dain, Lena, Shalev, Stavit A.

“…Patients with KCNK9 imprinting syndrome demonstrate congenital hypotonia, variable cleft palate, normal MRIs and EEGs, delayed development, and feeding…”
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Foot Drop after Ethanol Embolization of Calf Vascular Malformation: A Lesson on Nerve Injury by Tay, Vincent Khwee-Soon, Mohan, P. Chandra, Liew, Wendy Kein Meng, Mahadev, Arjandas, Tay, Kiang Hiong

“…Ethanol is often used in sclerotherapy to treat vascular malformations. Nerve injury is a known complication of this procedure. However, the management of this…”
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Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders by Bylstra, Yasmin, Kuan, Jyn Ling, Lim, Weng Khong, Bhalshankar, Jaydutt Digambar, Teo, Jing Xian, Davila, Sonia, Te Teh, Bin an, Rozen, Steve, Tan, Ene-Choo, Liew, Wendy Kein Meng, Yeo, Khung Keong, Tan, Patrick, Saw, Seang Mei, Cheng, Ching-Yu, Cook, Stuart, Foo, Roger, Jamuar, Saumya Shekhar

“…At the time of publication the author Jyn Ling Kuan did not have a master's degree; this has now been amended to BSc. This has now been corrected in the PDF…”
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Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? by Jamuar, Saumya Shekhar, Kuan, Jyn Ling, Brett, Maggie, Tiang, Zenia, Tan, Wilson Lek Wen, Lim, Jiin Ying, Liew, Wendy Kein Meng, Javed, Asif, Liew, Woei Kang, Law, Hai Yang, Tan, Ee Shien, Lai, Angeline, Ng, Ivy, Teo, Yik Ying, Venkatesh, Byrappa, Reversade, Bruno, Tan, Ene Choo, Foo, Roger

“…In Western cohorts, the prevalence of incidental findings (IFs) or incidentalome, referring to variants in genes that are unrelated to the patient's primary…”
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Teaching Neuro Images : Characteristic phenotype of Ullrich congenital muscular dystrophy by Liew, Wendy K.M., Darras, Basil T.

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Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld–Rieger syndrome: case report and review of literature by Hong, Ashley Shuen Ying, Lim, Jiin Ying, Isa, Mas Suhaila, Liew, Wendy Kein-Meng, Tan, Barrie, Ho, Ching Lin, Leo, Seo Wei, Jamuar, Saumya Shekhar

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Electrophysiologic features of fibular neuropathy in childhood and adolescence by Karakis, Ioannis, Khoshnoodi, Mohammad, Liew, Wendy, Nguyen, Elizabeth S., Jones, H. Royden, Darras, Basil T., Kang, Peter B.

“…ABSTRACT Introduction: We studied patterns of nerve injury in pediatric common fibular (peroneal) neuropathy (CFN). Methods: A retrospective analysis was…”
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The Practice of Pediatric EMG in the Molecular Era: State of the Science and Temporal Trends (P07.186) by Karakis, Ioannis, Liew, Wendy, Jones, H., Darras, Basil, Kang, Peter

“…Abstract only…”
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