Ngā hua rapu kaituhi :: APM

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Assessing the impact of the five senses on quality of life in mucopolysaccharidoses mā Roberto Giugliani, Paul Harmatz, Shuan‐Pei Lin, Maurizio Scarpa

I whakaputaina 2020

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Revisão

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2

MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false‐negative results in sanfilippo and morquio syndromes mā Chih‐Kuang, Chang, Shuan‐Pei, Lin, Shyue‐Jye, Lee, Tuen‐Jen, Wang

I whakaputaina 2002

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3

A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses mā Chih‐Kuang Chuang, Hsiang‐Yu Lin, Tuen-Jen Wang, Chia‐Chen Tsai, Hsuan‐Liang Liu, Shuan‐Pei Lin

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks mā Chung‐Lin Lee, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun‐Ting Lo, Hsiang‐Yu Lin, Shuan‐Pei Lin

I whakaputaina 2025

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5

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria mā Mei‐Ying Liu, Yan-Ling Yang, Ying-Chen Chang, Szu-Hui Chiang, Shuan-Pei Lin, Lian-Shu Han, Yu Qi, Kwang-Jen Hsiao, Tze-Tze Liu

I whakaputaina 2010

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Artigo

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A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan mā Shuan‐Pei Lin, Hsiang‐Yu Lin, Tuen-Jen Wang, Chia-Ying Chang, Chia-Hui Lin, Sung‐Fa Huang, Chia‐Chen Tsai, Hsuan‐Liang Liu, Joan Keutzer, Chih‐Kuang Chuang

I whakaputaina 2013

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Artigo

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The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects mā Paul Harmatz, Eugen Mengel, Roberto Giugliani, Vassili Valayannopoulos, Shuan-Pei Lin, Rossella Parini, Nathalie Guffon, Barbara K. Burton, Christian J. Hendriksz, John J. Mitchell, Ana María Martins, Simon Jones, Norberto Guelbert, Ashok Vellodi, Carla E. M. Hollak, Peter Slasor, Celeste Decker

I whakaputaina 2013

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Artigo

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Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI mā Min-Ju Chan, Hsuan-Chieh Liao, Michael H. Gelb, Chih‐Kuang Chuang, Mei‐Ying Liu, Hsiao-Jan Chen, Shu‐Min Kao, Hsiang‐Yu Lin, You-Hsin Huang, Arun Kumar, Naveen Kumar Chennamaneni, Nagendar Pendem, Shuan‐Pei Lin, Chuan-Chi Chiang

I whakaputaina 2018

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Artigo

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Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of <i>GALNS</i> gene variants and reporting of 68 novel variants mā Alessandra Zanetti, Francesca D’Avanzo, Moeenaldeen AlSayed, Ana Carolina Brusius‐Facchin, Yin‐Hsiu Chien, Roberto Giugliani, Emanuela Izzo, David C. Kasper, Hsiang‐Yu Lin, Shuan‐Pei Lin, Laura Pollard, Akashdeep Singh, Rodolfo Tonin, Tim Wood, Amelia Morrone, Rosella Tomanin

I whakaputaina 2021

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Revisão

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10

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome mā Paul Harmatz, Eugen Mengel, Roberto Giugliani, Vassili Valayannopoulos, Shuan-Pei Lin, Rossella Parini, Nathalie Guffon, Barbara K. Burton, Christian J. Hendriksz, John J. Mitchell, Ana María Martins, Simon Jones, Norberto Guelbert, Ashok Vellodi, Frits A. Wijburg, Kehu Yang, Peter Slasor, Celeste Decker

I whakaputaina 2014

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Artigo

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11

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure mā Minke H. de Ru, Q. Teunissen, Johanna H. van der Lee, Michael Beck, Olaf A. Bodamer, Lorne A. Clarke, Carla E. M. Hollak, Shuan-Pei Lin, M. Rojas, Gregory M. Pastores, Julian Raiman, Maurizio Scarpa, Eileen P. Treacy, Anna Tylki‐Szymańska, J. E. Wraith, J Zeman, Frits A. Wijburg

I whakaputaina 2012

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Artigo

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12

Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups mā Tzu-Hung Chu, Yin‐Hsiu Chien, Hsiang‐Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang‐Cheng Lin, Chia-Feng Yang, Wuh‐Liang Hwu, Ni‐Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey‐Heng Hu, Ming‐Chih Ho, Dau-Ming Niu

I whakaputaina 2019

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Artigo

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Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB mā İlyas Okur, Fatih Süheyl Ezgü, Roberto Giugliani, Nicole Muschol, Anja F. Koehn, Hernán Amartino, Paul Harmatz, María José de Castro López, María L. Couce, Shuan‐Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Heidi Peters, Joy Lee, Igor Nestrašil, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli

I whakaputaina 2022

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Artigo

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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese mā Mullin H.C. Yu, Mandy Ho-Yin Tsang, Sophie Lai, Matthew Sai-pong Ho, Donald Tse, Brooke Willis, Anna Ka‐Yee Kwong, Yen-Yin Chou, Shuan-Pei Lin, Catarina M. Quinzii, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Pao‐Lin Kuo, C. Chan, Cheung Tsoi, Shuk-Ching Chong, Richard J. Rodenburg, Jan Smeitink, Christopher Chun Yu Mak, Kit San Yeung, Jasmine Lee-Fong Fung, Wendy Lam, Joannie Hui, Ni‐Chung Lee, Cheuk‐Wing Fung, Brian Hon‐Yin Chung

I whakaputaina 2019

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Artigo

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly mā Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Mónica Furlano, Ida Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer Hu, Anne‐Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won‐Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, M. Bruce, Gaik-Siew Ch’ng, Shuan‐Pei Lin, Jui-Hsing Chang, Chao‐Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly‐Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca O. Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Özaltın, Marleen Praet, Chitra Prasad, Agnieszka Prytula-Ebels, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman, Kenza Soulami, David A. Sweetser, Wen‐Hui Tsai, Jeng-Daw Tsai, Rezan Topaloĝlu, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Klaas J. Wierenga, Matthias T. F. Wolf, Sik-Nin Wong, Sebastian A. Leidel, Gessica Truglio, Peter C. Dedon, Annapurna Poduri, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Pekka Kannus, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker

I whakaputaina 2017

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Artigo

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