Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease
Martha Caterina Faraguna, Alexander Broomfield, Serena Gasperini, Yin‐Hsiu Chien et autres
1 citationNeurology Genetics
Yin‐Hsiu Chien
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467Publications signalées
11585Citations signalées
5Affiliations récentes
Institutions déclarées
Domaines associés
Lysosomal Storage Disorders ResearchMetabolism and Genetic DisordersGlycogen Storage Diseases and MyoclonusMitochondrial Function and PathologyBiochemical and Molecular Research
Publications récentes
Cognitive development in children with Prader–Willi syndrome receiving early growth hormone therapy
Po-Jung Lai, Fuu-Jen Tsai, Siew-Lee Wong, Hui-An Chen et autres
0 citationsPediatrics & Neonatology
Degree of major histocompatibility complex mismatching may be detrimental to B cell functional reconstitution after hematopoietic stem cell transplantation in infants with severe combined immunodeficiency
Chih-An Chen, Ching-Wei Lin, Yuan-Ning Yang, Chao‐Neng Cheng et autres
0 citationsJournal of Microbiology Immunology and Infection
GPIHBP1 Autoantibody‐Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature
Rai‐Hseng Hsu, Wuh‐Liang Hwu, Feng‐Jung Yang, Ni‐Chung Lee et autres
0 citationsMolecular Genetics & Genomic Medicine
Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I
Teck Boon Tew, Chin‐Hsien Lin, Hsueh‐Wen Hsueh, Sung‐Pin Fan et autres
0 citationsJournal of Inherited Metabolic Disease
Iron matters: a treatable modifier in autosomal dominant hypophosphatemic rickets: lessons for the clinical nephrologist
Meng-Ju Melody Tsai, Ni‐Chung Lee, Yi‐Ching Tung, Yin‐Hsiu Chien et autres
0 citationsJournal of Nephrology
Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan
Li‐Ling Lin, Tzu‐Hung Hsiao, Han-Yu Ye, S.-S. Liu et autres
0 citationsnpj Genomic Medicine
Updates of spinal muscular atrophy in advanced therapies
Wen‐Chin Weng, Wang‐Tso Lee, Yin‐Hsiu Chien, Li‐Kai Tsai
4 citationsJournal of the Formosan Medical Association
Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale
Chung‐Lin Lee, Hung‐Hsiang Fang, Chih‐Kuang Chuang, Dau-Ming Niu et autres
0 citationsDiagnostics
Beyond Phosphate: Role of Iron in Managing Autosomal Dominant Hypophosphatemic Rickets
Feng‐Jung Yang, Meng-Ju Melody Tsai, Yi‐Ching Tung, Ni‐Chung Lee et autres
0 citationsJournal of the American Society of Nephrology
Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease
Sung‐Pin Fan, Ya‐Fang Chen, Cheng‐Hsuan Li, Yih‐Chih Kuo et autres
1 citationAnnals of Clinical and Translational Neurology
Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population
Fook‐Choe Cheah, Sharifah Azween Syed Omar, Jasmine Lee, Zheng Jiet Ang et autres
1 citationInternational Journal of Neonatal Screening
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