Atlas of inherited metabolic diseases. / by Nyhan, William L., 1926-, Barshop, Bruce Allen, Al-Aqeel, Aida I., Nyhan, William L., 1926- Atlas of metabolic diseases

Microelements and Inherited Metabolic Diseases by Eliška Marklová

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NEONATAL SCREENING FOR INHERITED METABOLIC DISEASES by Valeriu Popescu, Alis Antrasian, Andrei Zamfirescu

Subjects: “…inherited metabolic disease…”
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Movement disorders in inherited metabolic diseases in children by Arushi Gahlot Saini, Suvasini Sharma

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Acute Encephalopathy Caused by Inherited Metabolic Diseases by Yohei Sugiyama, Kei Murayama

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Respiratory manifestations in patients with inherited metabolic diseases by Francesca Santamaria, Silvia Montella, Virginia Mirra, Sara De Stefano, Generoso Andria, Giancarlo Parenti

“…Growing evidence indicates that inherited metabolic diseases are increasingly being recognised. …”
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Hypoglycaemia related to inherited metabolic diseases in adults by Douillard Claire, Mention Karine, Dobbelaere Dries, Wemeau Jean-Louis, Saudubray Jean-Marie, Vantyghem Marie-Christine

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The significance of machine learning in neonatal screening for inherited metabolic diseases by Xiangchun Yang, Xiangchun Yang, Shuxia Ding, Jianping Zhang, Zhuojie Hu, Danyan Zhuang, Danyan Zhuang, Fei Wang, Fei Wang, Shanshan Wu, Changshui Chen, Haibo Li, Haibo Li

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The diagnosis of inherited metabolic diseases by microarray gene expression profiling by Taanman Jan-Willem, Champion Michael P, Perrett David, Young Bryan D, Chaplin Tracy, Schulz Reiner, Arenas Hernandez Monica, Fensom Anthony, Marinaki Anthony M

“…<p>Abstract</p> <p>Background</p> <p>Inherited metabolic diseases (IMDs) comprise a diverse group of generally progressive genetic metabolic disorders of variable clinical presentations and severity. …”
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Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers by Fang Guo, Lingna Zhou, Feng Zhang, Bin Yu, Yuqi Yang, Zhiwei Liu

Subjects: “…Neonatal inherited metabolic disease…”
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Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives by Tumienė B, del Toro Riera M, Grikiniene J, Samaitiene-Aleknienė R, Praninskienė R, Monavari AA, Sykut-Cegielska J

“…Birut&edot; Tumien&edot;,1,2 Mireia del Toro Riera,3 Jurgita Grikiniene,4 R&umacr;ta Samaitiene-Aleknien&edot;,4 R&umacr;ta Praninskien&edot;,4 Ahmad Ardeshir Monavari,5,6 Jolanta Sykut-Cegielska7 1Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; 2Vilnius University Hospital Santaros klinikos, Vilnius, Lithuania; 3Pediatric Neurology Department, Unit of Hereditary Metabolic Disorders, Hospital Universitari Vall d’Hebron, Barcelona, Spain; 4Clinic of Children’s Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; 5National Centre for Inherited Metabolic Disorders, Children’s Health Ireland at Temple Street Dublin, Dublin, Ireland; 6University College Dublin, Dublin, Ireland; 7Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, PolandCorrespondence: Birut&edot; Tumien&edot;, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariskiu str. 2, Vilnius, LT-06681, Lithuania, Tel +370 614 45026, Email birute.tumiene@santa.ltAbstract: More than 650 inherited metabolic diseases may present with epilepsy or seizures. …”
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Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases by Armayones Manuel, Vilaseca M, Cutillas Júlia, Fàbrega Jordi, Fernández Jorge, García Mei, Egea Natàlia, Pousada Modesta, Gómez-Zuñiga Beni, Pérez-Payarols Jaume, Artuch Rafael, Palau Francesc, Serrano Mercedes

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Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review by Yannick Moutapam-Ngamby—Adriaansen, François Maillot, François Labarthe, Bertrand Lioger

Subjects: “…Inherited metabolic diseases…”
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SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba by Ernesto Carlos González Reyes PhD, Elisa M. Castells MSc, Amarilys Frómeta MSc, Ana Luisa Arteaga MD, Lesley Del Río MSc, Yileidis Tejeda MSc, Pedro L. Pérez LT, Mary Triny Segura BSc, Pedro Almenares MSc, Yenitse Perea MSc, Niurka M. Carlos MSc, René Robaina MD, PhD, José L. Fernández-Yero MD, PhD

“…This article summarizes the main results of the implementation during the 30 years of SUMA technology in NSP for 5 inherited metabolic diseases, using ultramicroassays developed at the Department of Newborn Screening at the Immunoassay Center. …”
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Inherited Metabolic Diseases as a Multisystem Model of Mental Disorders Research by Grigory Rukavishnikov, Evgeny Kasyanov, Tatiana Zhilyaeva, Nikolay Neznanov, Galina Mazo

“…Abstract Recent biological and genetic research data confirm shared pathological mechanisms of inherited metabolic diseases and mental disorders. We suggest that for further research a model of synergistic heterozygosity can become a convenient tool. …”
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U-IMD: the first Unified European registry for inherited metabolic diseases by Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici, Stefan Kölker

Subjects: “…Unified european registry for inherited metabolic diseases…”
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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network by Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network

Subjects: “…Inherited metabolic diseases…”
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Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism by Sara Tucci, Khaled Ibrahim Alatibi, Zeinab Wehbe

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Pharmaceutical Oral Formulation of Methionine as a Pediatric Treatment in Inherited Metabolic Disease by Benjamin Querin, Arnaud Schweitzer-Chaput, Salvatore Cisternino, Sylvain Auvity, Anne-Sophie Fauqueur, Abdel Negbane, Alice Hadchouel, Joël Schlatter, Camille Cotteret

“…L-Methionine (Met) is an essential alpha-amino acid playing a key role in several metabolic pathways. Rare inherited metabolic diseases such as mutations affecting the MARS1 gene encoding methionine tRNA synthetase (MetRS) can cause severe lung and liver disease before the age of two years. …”
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Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases by Aileen Kenneson, Lauren Youngborg, Rani H. Singh

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