A Glucagonoma Presenting as Cerebral Vein Thrombosis and Diabetes by Marina Delli Colli, Bader N. Alamri, Laura Palma, Juan Rivera

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Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia by Christina G. Tise, Katie Ashton, Lachlan de Hayr, Kun-Di Lee, Omkar L. Patkar, Emma Krzesinski, Jennifer A. Bassetti, Erin M. Carter, Cathleen Raggio, Andreas Zankl, Anas M. Khanshour, Kristhen N. Atala, Jonathan J. Rios, Carol A. Wise, Ying Zhu, Futao Zhang, Tony Roscioli, Michael Buckley, Robert J. Harvey, Paul A. Dawson

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Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions? by Leila Shahbaznejad, Sayed-Reza Raeeskarami, Raheleh Assari, Abbas Shakoori, Hamidreza Azhideh, Yahya Aghighi, Fatemeh Tahghighi, Vahid Ziaee

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Comparing the diagnosis accuracy and efficacy of presepsin (sCD14) and nCD64 in neonatal sepsis: A systematic review and meta-analysis by Amit Kumar Mittal, Mamta Patel, Dolat Singh Shekhawat, Pratibha Singh, Kuldeep Singh

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The Role of Serum Vitamin D Levels and Vitamin D Receptor (<i>VDR</i>) Gene Variants on Dental Caries by Ece Şengün Berber, Feyza Umay Koç, Ayça Aykut, Burcu Barutçuoğlu, Fahinur Ertuğrul, Merve Tosyalı, Mert Pekerbaş, Arzu Aykut Yetkiner

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The Risk Factors for Diabetic Retinopathy in a Chinese Population: A Cross-Sectional Study by Qingmin Sun, Yali Jing, Bingjie Zhang, Tianwei Gu, Ran Meng, Jie Sun, Dalong Zhu, Yaping Wang

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p53-loss induced prostatic epithelial cell plasticity and invasion is driven by a crosstalk with the tumor microenvironment by Darya Yanushko, Beatriz German Falcon, Rana El Bizri, Despoina Pervizou, Robin Dolgos, Céline Keime, Tao Ye, Christelle Thibault-Carpentier, Clementine Le Magnen, Sandrine Henri, Gilles Laverny, Daniel Metzger

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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

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Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) a... by Wuh-Liang Hwu, Hui-Min Lee, John Devin Peipert, Rongrong Zhang, Christian Werner, J. Rafael Sierra, Thomas O’Connell, Jonathan J. Woolley, Marjorie Crowell, Antonia Wang, Ioannis Tomazos

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CD40 Gene Polymorphisms Associated with Susceptibility and Coronary Artery Lesions of Kawasaki Disease in the Taiwanese Population by Ho-Chang Kuo, Mei-Chyn Chao, Yu-Wen Hsu, Ying-Chi Lin, Ying-Hsien Huang, Hong-Ren Yu, Ming-Feng Hou, Chi-Di Liang, Kuender D. Yang, Wei-Chiao Chang, Chih-Lu Wang

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An Overview of DNA Repair in Amyotrophic Lateral Sclerosis by Fabio Coppedè

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Reply by Denis Vincent, MD, PhD, Ludovic Martin, MD, PhD, Sven Cichon, PhD, Christian Drouet, PharmD, PhD, Arije Ghannam, MD PhD

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Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX by Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto

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Amniotic Stem Cells: Potential in Regenerative Medicine by Mahmud Bani-Yaghoub, Patricia Wilson, Markus Hengstschläger, Toshio Nikaido, Duanqing Pei

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Expression Profile of Genes Potentially Associated with Adequate Glycemic Control in Patients with Type 2 Diabetes Mellitus by Sâmia Cruz Tfaile Corbi, Alliny Souza Bastos, Rafael Nepomuceno, Thamiris Cirelli, Raquel Alves dos Santos, Catarina Satie Takahashi, Cristiane S. Rocha, Silvana Regina Perez Orrico, Claudia V. Maurer-Morelli, Raquel Mantuaneli Scarel-Caminaga

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Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes by Maurizio Ricci, Rita Compagna, Bruno Amato, Sercan Kenanoglu, Dominika Veselenyiova, Danjela Kurti, Mirko Baglivo, Syed Hussain Basha, Roberta Serrani, Giacinto Abele Donato Miggiano, Barbara Aquilanti, Giuseppina Matera, Giuseppe Marceddu, Valeria Velluti, Lucilla Gagliardi, Munis Dundar, Juraj Krajcovic, Matteo Bertelli

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Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy by Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen

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Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency by Avni Y. Joshi, Erin K. Ham, Neel B. Shah, Xiangyang Dong, Shakila P. Khan, Roshini S. Abraham

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Multiclinic Observations on the Simplified Diet in PKU by Laurie Bernstein, Casey Burns, Melissa Sailer-Hammons, Angela Kurtz, Frances Rohr

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Food Processing and Maillard Reaction Products: Effect on Human Health and Nutrition by Nahid Tamanna, Niaz Mahmood

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