Search Results - "Inborn error of metabolism"

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry by Chengfang Tang, Lixin Li, Ting Chen, Yulin Li, Bo Zhu, Yinhong Zhang, Yifan Yin, Xiulian Liu, Cidan Huang, Jingkun Miao, Baosheng Zhu, Xiaohua Wang, Hui Zou, Lianshu Han, Jizhen Feng, Yonglan Huang

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Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism-A Clinical Report and Recommendations by Katherine G. Langley, Elizabeth N. Chisholm, Brooke B. Spangler, Erin T. Strovel, Jennifer O. Macdonald, Samantha Schrier Vergano

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Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism by Willemijn J. van Rijt, Peter C. J. I. Schielen, Yasemin Özer, Klaas Bijsterveld, Fjodor H. van der Sluijs, Terry G. J. Derks, M. Rebecca Heiner-Fokkema

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Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid by Congcong Shi, Sitao Li, Yu Gao, Zhirong Deng, Hu Hao, Xin Xiao

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Profound Biotinidase Deficiency: A Rare but Treatable Inborn Error of Metabolism in a Neonate with Recurrent Seizures by Ye-Na Kim, Mi-Sun Yum, Min-Jee Kim, Tae-Sung Ko

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Evaluation of diagnostic accuracy of biomarkers of inborn errors of metabolism in sick neonates: A prospective observational study by N.B. Mathur, Kaushaki Shankar, Seema Kapoor, Bijo Varughese

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Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China by Chi-Ju Yang, Na Wei, Ming Li, Kun Xie, Jian-Qiu Li, Cheng-Gang Huang, Yong-Sheng Xiao, Wen-Hua Liu, Xi-Gui Chen

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The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism by Alice Bessey, James Chilcott, Abdullah Pandor, Suzy Paisley

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A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns by Takanori Onuki, Shota Hiroshima, Kentaro Sawano, Nao Shibata, Yohei Ogawa, Keisuke Nagasaki, Hiromi Nyuzuki

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Hematopoetic stem cell transplantation for inborn errors of metabolism - An experience from a tertiary care centre in India by Neha Rastogi, Ruchira Misra, Anjali Yadav, Sunisha Arora, Upasana Kartik, Dhwanee Thakkar, Satya Prakash Yadav

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A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism by Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai, David S. Cram

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Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey by Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung

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Parents' Perceptions Regarding Their Children's Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism by Tanjana Harings, Martina Patrizia Neininger, Simone Eisenhofer, Alena Gerlinde Thiele, Wieland Kiess, Astrid Bertsche, Skadi Beblo, Thilo Bertsche

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Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China by Huang Xinwen, Yang Lili, Tong Fan, Yang Rulai, Zhao Zhengyan

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Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002-2014) by F. H. de Bitencourt, I. V. D. Schwartz, F. S. L. Vianna

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Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism by Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang

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"Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages by Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu

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Investigação diagnóstica de erros inatos do metabolismo em um hospital universitário Diagnostic investigation of inborn errors of metabolism in a university hospital by Fátima Aparecida Mazzini Amâncio, Fernanda Bertão Scalco, Cláudio Antonio Rabello Coelho

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Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping by McNeill, Alisdair

Subjects: “…inborn error of metabolism…”
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Genetic Testing for Rare Diseases

Subjects: “…inborn errors of metabolism…”
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