Clinical improvement of renal amyloidosis in a patient with systemic-onset juvenile idiopathic arthritis who received tocilizumab treatment: a case report and literature review by Songkiat Chantarogh, Soamarat Vilaiyuk, Thipwimol Tim-Aroon, Suchin Worawichawong

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Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation by Somboon Wankanit, Pat Mahachoklertwattana, Thipwimol Tim-Aroon, Kinnaree Sorapipatcharoen, Preamrudee Poomthavorn

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Case report of a novel variant in SMPD1 of Niemann-Pick disease type A with a liver histology from Thailand by Thitima Ngoenmak, Julintorn Somran, Montana Foonoi, Klaita Srisingh, Nun Singpan, Thipwimol Tim-Aroon

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A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficie... by Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon

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Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand by Kalyarat Wilaiwongsathien, Duangrurdee Wattanasirichaigoon, Sasivimol Rattanasiri, Chanatpon Aonnuam, Chayada Tangshewinsirikul, Thipwimol Tim-Aroon

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Comparison of 24-Hour Recall and 3-Day Food Records during the Complementary Feeding Period in Thai Infants and Evaluation of Plasma Amino Acids as Markers of Protein Intake by Kulnipa Kittisakmontri, Julie Lanigan, Areeporn Sangcakul, Thipwimol Tim-Aroon, Pornchai Meemaew, Kanticha Wangaueattachon, Mary Fewtrell

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Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome by Kirana Veenin, Duangrurdee Wattanasirichaigoon, Bhoom Suktitipat, Saisuda Noojarern, Patcharee Lertrit, Thipwimol Tim-Aroon, Supannee Kaewsutthi, Suporn Treepongkaruna

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A generation of human induced pluripotent stem cell line (MUi031-A) from a type-3 Gaucher disease patient carrying homozygous mutation on GBA1 gene by Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanumas

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Establishment of MUi030-A: A human induced pluripotent stem cell line carrying homozygous L444P mutation in the GBA1 gene to study type-3 Gaucher disease by Kitsada Kangboonruang, Tanapat Pornsukjantra, Pirut Tong-Ngam, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas, Kanit Bhukhai, Alisa Tubsuwan

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Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects by Kitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, Ariya Pradabmuksiri, Thipwimol Tim‐Aroon, Antonio Novelli, Sara Loddo, Silvana Briuglia, Cutrupi M. Concetta, Duangrurdee Wattanasirichaigoon, Natini Jinawath

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Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis by Supranee Thongpradit, Natini Jinawath, Natini Jinawath, Asif Javed, Asif Javed, Laran T. Jensen, Issarapa Chunsuwan, Kitiwan Rojnueangnit, Thipwimol Tim-Aroon, Krisna Lertsukprasert, Meng-Shin Shiao, Nongnuch Sirachainan, Duangrurdee Wattanasirichaigoon

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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand by Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti

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Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and... by Pharuhad Pongmee, Sanchawan Wittayakornrerk, Ramrada Lekwuttikarn, Sasikarn Pakdeeto, Piangor Watcharakuldilok, Chatchay Prempunpong, Thipwimol Tim-Aroon, Chawintee Puttanapitak, Piyawan Wattanasoontornsakul, Thitiporn Junhasavasdikul, Parith Wongkittichote, Parith Wongkittichote, Saisuda Noojarern, Duangrurdee Wattanasirichaigoon

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Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients by Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Duangrurdee Wattanasirichaigoon

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