Hakutulokset - Lee, Ni-Chung

A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome Tekijä Lee, Ni-Chung, Chien, Yin-Hsiu, Hwu, Wuh-Liang

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Newborn screening: Taiwanese experience Tekijä Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lee, Ni-Chung

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SUN-033 A Rare Case: Bone Pain and Continued Linear Growth in a Young Adult Male Due to Aromatase Deficiency Tekijä Lee, Ju-Hao, Lee, Ni-Chung, Tung, Yi-Ching

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Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan Tekijä Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Li, Mei-Hsin

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Fabry Disease: Incidence of the Common Later-Onset α-Galactosidase A IVS4+919G→A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Commo... Tekijä Chien, Yin-Hsiu, Lee, Ni-Chung, Chiang, Shu-Chuan, Desnick, Robert J, Hwu, Wuh-Liang

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A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review Tekijä Hsueh, Sung-Ju, Lee, Ni-Chung, Yang, Shu-Hua, Lin, Han-I, Lin, Chin-Hsien

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Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population Tekijä Chen, Szu‐Ju, Lee, Ni‐Chung, Chien, Yin‐Hsiu, Hwu, Wuh‐Liang, Lin, Chin‐Hsien

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The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan Tekijä Chiang, Shu-Chuan, Chien, Yin-Hsiu, Chang, Kai-Ling, Lee, Ni-Chung, Hwu, Wuh-Liang

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Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra‐Familial Heterogeneity Tekijä Li, Jeng‐Lin, Lee, Ni‐Chung, Chen, Pin‐Shiuan, Lee, Gin Hoong, Wu, Ruey‐Meei

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Eye anomalies and neurological manifestations in patients with PAX6 mutations Tekijä Chien, Yin-Hsuan, Huang, Hsiang-Po, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Chang, Tseng-Ching, Lee, Ni-Chung

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AB038. The biochemical and genetic analyses of biotinidase deficiency in the population of Taiwan Tekijä Huang, Tzu-Min, Chen, Li-Chu, Chen, Li-Shin, Chou, Shi-Ping, Tseng, Shis-Chuan, Lee, Ni-Chung

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Dietary intake and nutritional status of patients with phenylketonuria in Taiwan Tekijä Weng, Hui-Ling, Yang, Feng-Jung, Chen, Pey-Rong, Hwu, Wuh-Liang, Lee, Ni-Chung, Chien, Yin-Hsiu

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Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy Tekijä Chen, Chih-Ling, Lee, Chien-Nan, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Chang, Tung-Ming, Lee, Ni-Chung

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PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports Tekijä Chang, Yu-Ming, Chen, Chih-Chia, Lee, Ni-Chung, Sung, Junne-Ming, Chou, Yen-Yin, Chiou, Yuan-Yow

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Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study Tekijä Peng, Steven Shinn-Forng, Hwu, Wuh-Liang, Lee, Ni-Chung, Tsai, Fuu-Jen, Tsai, Wen-Hui, Chien, Yin-Hsiu

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Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst development Tekijä Wu, Frank Shao-Ying, Weng, Shao-Ping, Shen, Meng-Shun, Ma, Pei-Chun, Wu, Po-Kuan, Lee, Ni-Chung

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Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome Tekijä Fan, Sung-Pin, Hsueh, Hsueh-Wen, Huang, Hsin-Chieh, Chang, Koping, Lee, Ni-Chung, Huang, Pei-Hsin, Yang, Chih-Chao

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Caloric restriction in Alström syndrome prevents hyperinsulinemia Tekijä Lee, Ni-Chung, Marshall, Jan D., Collin, Gayle B., Naggert, Jürgen K., Chien, Yin-Hsiu, Tsai, Wen-Yu, Hwu, Wuh-Liang

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Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests Tekijä Wang, Li-Yun, Chen, Nien-I, Chen, Pin-Wen, Chiang, Shu-Chuan, Hwu, Wuh-Liang, Lee, Ni-Chung, Chien, Yin-Hsiu

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Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency Tekijä Ho, Shih-Yin, Chien, Yin-Hsiu, Tsai, Li-Kai, Muramatsu, Shin-ichi, Hwu, Wuh-Liang, Liou, Horng-Huei, Lee, Ni-Chung

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