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Orphanet Journal of Rare Diseases
|
April 15, 2025
Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia
I-Chih Ling, Dau-Ming Niu, Chia-Feng Yang, et al.
Orphanet Journal of Rare Diseases
|
May 14, 2013
Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses
Hsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
Archives of Neurology
|
March 12, 2008
Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency
Kai-Ming Liu, Tze-Tze Liu, Ni-Chung Lee, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 22, 2017
Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation
Christiane Auray-Blais, Pamela Lavoie, Michel Boutin, et al.
Journal of the Chinese Medical Association : JCMA
|
July 26, 2006
Corneal lesion as the initial manifestation of tyrosinemia type II
Chun-Pin Tsai, Pei-Yu Lin, Ni-Chung Lee, et al.
Journal of the Chinese Medical Association : JCMA
|
October 20, 2009
Extreme hypernatremia combined with rhabdomyolysis and acute renal failure
Tzu-Ying Yang, Jei-Wen Chang, Min-Hua Tseng, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
August 14, 2009
Turner syndrome phalangeal screening based on a two-stage linear regression concept
Chui-Mei Tiu, Tzu-Chiang Liu, Chi-Wen Hsieh, et al.
Respiratory Care
|
October 16, 2014
Late-onset Pompe disease with left-sided bronchomalacia
Chia-Feng Yang, Dau-Ming Niu, Mei-Jy Jeng, et al.
Molecular Genetics and Metabolism Reports
|
October 21, 2024
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature
Chih-Hsuan Lu, Chia-Feng Yang, Yun-Ru Chen, et al.
American Journal of Ophthalmology
|
June 15, 2005
Electrophysiological changes in lipaemia retinalis
Chao-Kung Lu, Shih-Jen Chen, Dau-Ming Niu, et al.
Page
of 19
Search research articles
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Showing results (31-40 of 184) with videos related to
Sort By:
Page
of 19
Orphanet Journal of Rare Diseases
|
April 15, 2025
Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia
I-Chih Ling, Dau-Ming Niu, Chia-Feng Yang, et al.
Orphanet Journal of Rare Diseases
|
May 14, 2013
Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses
Hsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
Archives of Neurology
|
March 12, 2008
Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency
Kai-Ming Liu, Tze-Tze Liu, Ni-Chung Lee, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 22, 2017
Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation
Christiane Auray-Blais, Pamela Lavoie, Michel Boutin, et al.
Journal of the Chinese Medical Association : JCMA
|
July 26, 2006
Corneal lesion as the initial manifestation of tyrosinemia type II
Chun-Pin Tsai, Pei-Yu Lin, Ni-Chung Lee, et al.
Journal of the Chinese Medical Association : JCMA
|
October 20, 2009
Extreme hypernatremia combined with rhabdomyolysis and acute renal failure
Tzu-Ying Yang, Jei-Wen Chang, Min-Hua Tseng, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
August 14, 2009
Turner syndrome phalangeal screening based on a two-stage linear regression concept
Chui-Mei Tiu, Tzu-Chiang Liu, Chi-Wen Hsieh, et al.
Respiratory Care
|
October 16, 2014
Late-onset Pompe disease with left-sided bronchomalacia
Chia-Feng Yang, Dau-Ming Niu, Mei-Jy Jeng, et al.
Molecular Genetics and Metabolism Reports
|
October 21, 2024
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature
Chih-Hsuan Lu, Chia-Feng Yang, Yun-Ru Chen, et al.
American Journal of Ophthalmology
|
June 15, 2005
Electrophysiological changes in lipaemia retinalis
Chao-Kung Lu, Shih-Jen Chen, Dau-Ming Niu, et al.
Page
of 19