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Chorea in Sporadic Creutzfeldt-Jakob Disease

Tan AH, Toh TH, Low SC, Fong SL, Chong KK, Lee KW, Goh KJ, Lim SY

No abstract available.
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Hyperglycemia-Associated Hemichorea-Hemiballismus with Predominant Ipsilateral Putaminal Abnormality on Neuroimaging

Fong SL, Tan AH, Lau KF, Ramli N, Lim SY

No abstract available.
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Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities

Tan AH, Ong TL, Ramli N, Tan LK, Lim JL, Azhan MA, Ahmad-Annuar A, Ibrahim KA, Abdul-Aziz Z, Ozelius LJ, Brashear A, Lim SY

No abstract available.
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Purposeless Groaning in Parkinson's Disease

Lim SY, Tan AH, Lim JL, Ahmad-Annuar A

Purposeless groaning has been reported in advanced progressive supranuclear palsy. We present a case of purposeless groaning occurring as a primary complaint in a patient with advanced Parkinson's disease. Purposeless...
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Pitfalls of Measuring Hemoglobin A1c in a Patient with Sickle Cell Trait in South Korea

Yang JH, Kim SY, Tan AH

No abstract available.
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A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up

Closas AMFD, Lohmann K, Tan AH, Ibrahim NM, Lim JL, Tay YW, Muthusamy KA, Ahmad-Annuar AB, Klein C, Lim SY

KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent...
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A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy

Lim SY, Tan AH, Ahmad-Annuar A, Schneider , Bee PC, Lim JL, Ramli N, Idris MI

We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and...
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Gastrointestinal Dysfunction in Parkinson’s Disease: Neuro-Gastroenterology Perspectives on a Multifaceted Problem

Tan AH, Chuah KH, Beh YY, Schee JP, Mahadeva S, Lim SY

Patients with Parkinson’s disease (PD) face a multitude of gastrointestinal (GI) symptoms, including nausea, bloating, reduced bowel movements, and difficulties with defecation. These symptoms are common and may accumulate during...
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Loss-of-Function Variant in the SMPD1 Gene in Progressive Supranuclear Palsy-Richardson Syndrome Patients of Chinese Ancestry

Lim SY, Tan AH, Foo JN, Tan YJ, Chew EG, Annuar AA, Closas AMD, Pajo A, Lim JL, Tay YW, Nadhirah A, Hor JW, Toh TS, Lit LC, Zulkefli J, Ngim SJ, Lim WK, Morris HR, Tan EK, Ng AS

Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson’s disease (PD) and possibly Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This role is exemplified by the involvement...
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Parathyroid Carcinoma Presenting as a Hyperparathyroid Crisis

Tan AH, Kim HK, Kim MY, Oh YL, Kim JS, Chung JH, Kim SW

No abstract available.
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Fecal Calprotectin in Parkinson’s Disease and Multiple System Atrophy

Hor JW, Lim SY, Khor ES, Chong KK, Song SL, Ibrahim NM, Teh CSJ, Chong CW, Hilmi IN, Tan AH

Objective Converging evidence suggests that intestinal inflammation is involved in the pathogenesis of neurodegenerative diseases. Previous studies on fecal calprotectin in Parkinson’s disease (PD) were limited by small sample sizes,...
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Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea

Kim MY, Tan AH, Ki CS, Lee JI, Jang HW, Shin HW, Kim SW, Min YK, Lee MS, Lee MK, Kim KW, Chung JH

Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing...
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Sustained Maintenance of Normal Insulin-like Growth Factor-I during Pregnancy and Successful Delivery in an Acromegalic Patient with Octreotide-LAR(R) Treatment

Kim SK, Jung JH, Kim JH, Hur KY, Tan AH, Kim HK, Lee JI, Chung HS, Kim KW

We report here on a 34-year-old Korean woman with active acromegaly and who received Octreotide-LAR(R) for 12 months following transsphenoidal pituitary surgery. During Octreotide-LAR(R) treatment, the clinical improvement was paralleled...
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A Case of Resistance to Thyroid Hormone with Thyroid Cancer

Kim HK, Kim D, Yoo EH, Lee JI, Jang HW, Tan AH, Hur KY, Kim JH, Kim KW, Chung JH, Kim SW

Resistance to thyroid hormone (RTH) is an autosomal dominant hereditary disorder that is difficult to diagnose because of its rarity and variable clinical features. The magnitude of RTH is caused...
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Smaller Mean LDL Particle Size and Higher Proportion of Small Dense LDL in Korean Type 2 Diabetic Patients

Suh S, Park HD, Kim SW, Bae JC, Tan AH, Chung HS, Hur KY, Kim JH, Kim KW, Lee MK

BACKGROUND: Small dense low density lipoprotein (sdLDL) has recently emerged as an important risk factor of coronary heart disease. METHODS: The mean LDL particle size was measured in 203 patients with...
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Clinical Differences between Classic Papillary Thyroid Carcinoma and Variants

Park JY, Lee JI, Tan AH, Jang HW, Shin HW, Oh YL, Shin JH, Kim JH, Kim JS, Son YI, Kim SW, Chung JH

BACKGROUND: The outcomes of papillary thyroid carcinoma (PTC) variants have been described in a limited number of studies. The purpose of this study was to compare patient outcomes of PTC...
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