Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries by Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner, Nicole I. Wolf

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Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys by Alison H. Howie, Kylie Tingley, Michal Inbar-Feigenberg, John J. Mitchell, Nancy J. Butcher, Martin Offringa, Maureen Smith, Kim Angel, Jenifer Gentle, Alexandra Wyatt, Philippe M. Campeau, Alicia Chan, Pranesh Chakraborty, Farah El Turk, Eva Mamak, Aizeddin Mhanni, Becky Skidmore, Rebecca Sparkes, Sylvia Stockler, Beth K. Potter, in collaboration with the INFORM RARE Network

“…Abstract Background Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases characterized by chronic, progressive multi-system manifestations with varying degrees of severity. …”
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No differences in native T1 of the renal cortex between Fabry disease patients and healthy subjects in cardiac-dedicated native T1 maps by Anna Damlin, Felix Kjellberg, Raquel Themudo, Kelvin Chow, Henrik Engblom, Mikael Oscarson, Jannike Nickander

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Towards Achieving Equity and Innovation in Newborn Screening across Europe by Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen, James R. Bonham

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Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals by Karolina M. Stepien, Irena Žnidar, Beata Kieć-Wilk, Beata Kieć-Wilk, Angel Jones, Daniela Castillo-García, Magy Abdelwahab, Shoshana Revel-Vilk, Shoshana Revel-Vilk, Ella Lineham, Derralynn Hughes, Uma Ramaswami, Tanya Collin-Histed

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Rare-variant collapsing analyses identified risk genes for neonatal acute respiratory distress syndrome by Huiyao Chen, Xiang Chen, Liyuan Hu, Chang Ye, Jiantao Zhang, Guoqiang Cheng, Lin Yang, Yulan Lu, Xinran Dong, Wenhao Zhou

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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease by Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

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Newborn Screening in a Pandemic—Lessons Learned by Matej Mlinaric, James R. Bonham, Viktor Kožich, Stefan Kölker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C. J. I. Schielen, Rolf H. Zetterström, Urh Groselj

“…Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality during the pandemic. …”
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The Role of the European Society of Human Genetics in Delivering Genomic Education by Edward S. Tobias, Edward S. Tobias, Edward S. Tobias, Elena Avram, Elena Avram, Patricia Calapod, Christophe Cordier, Johan T. den Dunnen, Johan T. den Dunnen, Can Ding, Vita Dolzan, Sofia Douzgou Houge, Sofia Douzgou Houge, Sofia Douzgou Houge, Sally Ann Lynch, James O’Byrne, Philippos Patsalis, Philippos Patsalis, Inga Prokopenko, Inga Prokopenko, Celia A. Soares, Celia A. Soares, Adam P. Tobias, William G. Newman, William G. Newman, William G. Newman

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Clinical utilisation of implantable loop recorders in adults with Fabry disease—a multi-centre snapshot study by Ashwin Roy, Ashwin Roy, Ravi Vijapurapu, Ravi Vijapurapu, Hibba Kurdi, Hibba Kurdi, Christopher Orsborne, Christopher Orsborne, Peter Woolfson, Manish Kalla, Manish Kalla, Ana Jovanovic, Christopher A. Miller, Christopher A. Miller, James C. Moon, Derralynn A. Hughes, Tarekegn Geberhiwot, Tarekegn Geberhiwot, Richard P. Steeds, Richard P. Steeds

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Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders by Tiantian Xiao, Xiang Chen, Yan Xu, Huiyao Chen, Xinran Dong, Lin Yang, Bingbing Wu, Liping Chen, Long Li, Deyi Zhuang, Dongmei Chen, Yuanfeng Zhou, Huijun Wang, Wenhao Zhou, Wenhao Zhou

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Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation by Paola de Haas, Marien I. de Jonge, Hans J. P. M. Koenen, Ben Joosten, Mirian C. H. Janssen, Mirian C. H. Janssen, Lonneke de Boer, Wiljan J. A. J. Hendriks, Dirk J. Lefeber, Dirk J. Lefeber, Alessandra Cambi

“…Congenital disorders of glycosylation (CDG) are inherited metabolic diseases characterized by mutations in enzymes involved in different steps of protein glycosylation, leading to aberrant synthesis, attachment or processing of glycans. …”
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Clinical Incidence and Characteristics of Newly Diagnosed Type 1 Diabetes in Chinese Children and Adolescents: A Nationwide Registry Study of 34 Medical Centers by Guo-Hua Li, Ke Huang, Guan-Ping Dong, Jian-Wei Zhang, Chun-Xiu Gong, Fei-Hong Luo, Xiao-Ping Luo, Chun-Lin Wang, Min Zhu, Pin Li, Ling Wang, Jun-Fen Fu, The T1DM China Study Group for Children Adolescents

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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy init... by Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schöls, Nicole I. Wolf

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Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients by Jitao Zhu, Wenhui Li, Sha Yu, Wei Lu, Qiong Xu, Sujuan Wang, Yanyan Qian, Qiufang Guo, Suzhen Xu, Yao Wang, Ping Zhang, Xuemei Zhao, Qi Ni, Renchao Liu, Xu Li, Bingbing Wu, Shuizhen Zhou, Huijun Wang

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Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis by Hui Xiao, Huiyao Chen, Xiang Chen, Yulan Lu, Bingbing Wu, Huijun Wang, Yun Cao, Liyuan Hu, Xinran Dong, Wenhao Zhou, Lin Yang

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Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient by Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello

“…Abstract Background Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricopeptide repeat-containing (LRPPRC). …”
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Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects by Débora de Paula Michelatto, Leif Karlsson, Ana Letícia Gori Lusa, Camila D’Almeida Mgnani Silva, Linus Joakim Östberg, Bengt Persson, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Michela Barbaro, Maricilda Palandi de Mello, Svetlana Lajic

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Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy by Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng

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Trimethylamine increases intestinal fatty acid absorption: in vitro studies in a Caco-2 cell culture system by Catarina Rodrigues, Shámila Ismael, Inês Castela, Inês Barreiros-Mota, Maria João Almeida, Gilberto Maia Santos, Conceição Calhau, Júlio César Rocha, Ana Faria, João R. Araújo

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