Paper Review Records
All Paper Review Records
10 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
A novel pretreatment of dried blood spot filter paper to improve the preservation of amino acids: a technology to increase access and care
AuthorsKirkland A. Wilson; Yun Zhou; Gary Cunningham; Matthew S. Bramble; Sahana Kumar; Kojo Danso; Braelynn Tomanio; Kimberly Chapman; Marshall Summar; Hilaire Musasa Hanshi-Hatuhu; Desire Tshala-Katumbay; Dieudonne Mumba-Ngoyi; Debra S. Regier
AffiliationsDepartment of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA; Center for Human Genetics, University Hospitals, Cleveland, OH, USA; Center for Precision Medicine and Genomics, Children's Research Institute, Children's National Hospital, Washington, DC, USA; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, California, USA; Uncommon Cures, Chevy Chase, MD, USA; Department of Neurology, Kinshasa University, Kinshasa, Democratic Republic of the Congo; Department of Neurology, Oregon Health & Science University, Portland, OR, USA; Institut National de Recherche Biomédicale (INRB), Kinshasa, Democratic Republic of the Congo; Division of Genetics, Department of Pediatrics, Atrium Health-Levine Children's Hospital, Wake Forest University School of Medicine, Charlotte, NC, USA
Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina
AuthorsMolly M. Crenshaw; Erica B. Nading; Jamie Mills; Erin Huggins; Natalie Krohl; Deeksha Bali; Sarah P. Young; Ashlee R. Stiles; Kimberly Blake; Lara Percenti; Dee Pettit; Sam Freeman; Scott Shone; Edwin C. Ferren; Katherine J. Dempsey; Kayleigh Bright; Catherine Rehder; Priya S. Kishnani; Jennifer L. Cohen
AffiliationsDivision of Genetics & Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Division of Public Health, State Laboratory of Public Health, NC Department of Health and Human Services, Raleigh, NC, USA; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA; Division of Child and Family Well-Being, Health, NC Department of Health and Human Services, Raleigh, NC, USA; Division of Genetics, Department of Pediatrics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA; Molecular Diagnostics Laboratory, Department of Pathology, Duke University Health System, Durham, NC, USA
Metabolic alterations associated with immune dysfunction in lysinuric protein intolerance
AuthorsBetul Gemici Karaaslan; Ayse Cigdem Aktuglu Zeybek; Nihan Burtecene; Meltem Gokden; Esra Isat; Mehmet Serif Cansever; Haluk Cokuğras; Duhan Hopurcuoglu; Gökçe Nurdan Cengiz; Birol Topcu; Esra Yucel; Tanyel Zubarioğlu; Ertugrul Kiykim; Ayca Kiykim
AffiliationsCerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Istanbul University-Cerrahpasa, Istanbul, Turkey; Cerrahpaşa Faculty of Medicine, Pediatric Allergy and Immunology Research Laboratory, Istanbul University-Cerrahpaşa, Istanbul, Turkey; Cerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Istanbul, Turkey; Cerrahpaşa Faculty of Medicine, Research Laboratory of Metabolism, Istanbul University-Cerrahpaşa, Istanbul, Turkey; Cerrahpasa Faculty of Medicine, Department of Pediatrics, Istanbul University-Cerrahpasa, Istanbul, Turkey; Department of Medical Services and Techniques, Vocational School of Health Services, Istanbul University-Cerrahpaşa, Istanbul, Turkey; Department of Biostatistics, Namik Kemal University, Tekirdag, Turkey; Istanbul University-Cerrahpasa, Institute of Pulmonology and Tuberculosis, Department of Pulmonary Immunology, Istanbul, Turkey
Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay
AuthorsShelly Goomber; Erin Huggins; Catherine W. Rehder; Gregory E. Crawford; Seung-Hye Jung; Jessica Doxey; Apoorva K. Iyengar; Erica B. Nading; Priya S. Kishnani; Deeksha S. Bali
AffiliationsDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, United States; Department of Pathology, Duke University Medical Center, Durham, NC, United States; Biochemical Genetics Laboratory, Duke University Medical Center, Durham, NC, United States
Intracerebroventricular repeat dose CPI-601 recombinant human palmitoyl-protein thioesterase-1 in cynomolgus monkey: safety, pharmacokinetics, and dose selection
AuthorsRenuka Raman; Jason Winsor; Kendall C. Case; Jixiang Xia; Thomas Daly; Craig Benscics; Devin Turner; Ben Horst; Landon Karustis; Zahra Shahrokh; Magdalena Leszczyniecka; Thomas R. Lane; Sean Ekins
AffiliationsCollaborations Pharmaceuticals, Inc, Raleigh, NC 27606, USA; Northern Bio, Olthoff Dr., Muskegon, MI 49444, USA; Northern Bio, Portage Rd, Portage, MI 49002, USA; Immunovive LLC, Turnpike Road Suite 1, Chelmsford, MA 01824, USA; STC Biologics, Inc., 330 Nevada Street, Newton, MA 02460, USA
Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease
AuthorsAntoine Rivaux; Nathalie Guffon; Cécile Pagan; Anaïs Brassier; François Guérin; Laurent Pasquier; Youssef Sekkach; Babacar Ndiaye; Alain Fouilhoux; Cécile Acquaviva-Bourdain; Séverine Ruet; Roseline Froissart; Magali Pettazzoni
AffiliationsDepartment of Biochemistry and Molecular Biology, Inborn Errors of Metabolism Unit, Hospices Civils de Lyon, 69500 Bron, France; National Reference Centre for Hereditary Metabolic Diseases, Hospices Civils de Lyon, 69500 Bron, France; Department of Pediatric Metabolism, Reference Center of Inherited Metabolic Disorders, Hôpital Necker-Enfants Malades, Assistance Publique–Hôpitaux de Paris (AP-HP), Université Paris Cité, 75015 Paris, France; Department of Pediatrics, Groupe Hospitalier Littoral Atlantique, 17000 La Rochelle, France; Clinical Genetics Service, Reference Centre for Rare Intellectual Disabilities, Centre Hospitalier Universitaire de Rennes, 16 Boulevard de Bulgarie, 35203 Rennes, France; Department of Internal Medicine B, Mohammed V Military Teaching Hospital, Rabat, Morocco; Biomedical Laboratory, Institut Pasteur de Dakar, BP 220 Dakar, Senegal
Hepatoerythropoietic porphyria in a 2-year-old child: Clinical features and effects of treatment
AuthorsNarmene Bensaber; Benny Tran; Lina Rebeiz; Chenqing Wang; Silvia Tortorelli; Lenore K. Yalom; John Trinidad; Laura Wiltsie; Nanda Kerkar; Akshata Moghe; Karl E. Anderson; Rebecca K. Leaf; Amy K. Yeung
AffiliationsDepartment of Medicine, Mass General Brigham, 55 Fruit Street, Boston, MA 02114, USA; Cutaneous Biology Research Center, Massachusetts General Hospital, 149 13th Street, Charlestown, MA 02129, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA; Department of Dermatology, Mass General Brigham, 55 Fruit Street, Boston, MA 02114, USA; Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA; Department of Pediatrics, Mass General Brigham, 55 Fruit Street, Boston, MA 02114, USA; Division of Gastroenterology, University of Texas Health Science Center, 6431 Fannin Street, Houston, TX 77030, USA; Division of Gastroenterology, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX 77555, USA
Autonomic and small fiber neuropathy in patients with acute hepatic porphyrias
AuthorsMohamed Kazamel; Brendan McGuire; Robert J. Desnick
AffiliationsDepartment of Neurology, University of Alabama at Birmingham, Birmingham, AL, United States of America; Division of Gastroenterology and Hepatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, United States of America; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, United States of America
Challenges in Porphyria diagnosis and management: When variegate Porphyria meets HIV
AuthorsLaura Sabina Varela; Viviana Alicia Melito; Fabiana Alejandra Caballero; Marcelo Guolo; Verónica Goñi; Fernando Baccaro; Mariana Agosta; María Pasman; Valeria Pachioli; V. Lucía Tomassi; Ana María Buzaleh; Victoria Estela Parera
AffiliationsCentro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), UBA- CONICET, Hospital de Clínicas José de San Martín, Av. Córdoba 2351, 1SS, C1120 Cdad Autónoma de Buenos Aires, Argentina; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Av. Int. Cantilo, C1428 Cdad Autónoma de Buenos Aires, Argentina; Hospital Fernández, Av. Cerviño 3356, C1425AGP Cdad Autónoma de Buenos Aires, Argentina; Hospital Rocca, Segurola 1949, C1407AOM Cdad Autónoma de Buenos Aires, Argentina; Hospital Ramos Mejía, Gral. Urquiza 609, C1221ADC Cdad Autónoma de Buenos Aires, Argentina; Universidad Favaloro, Av. Belgrano 1746, C1093 Cdad Autónoma de Buenos Aires, Argentina
Hydroxocobalamin monotherapy in patients with cblC deficiency: Biochemical analysis and clinical observations
AuthorsSi Ding; Lili Hao; Yi Ding; Yuxin Deng; Ting Chen; Xia Zhan; Peng Xu; Chiju Yang; Hui Zou; Yongxing Chen; Shengnan Wu; Yufeng Wang; Min Yang; Lili Liang; Lianshu Han
AffiliationsDepartment of Pediatric Infection, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; Newborn Screening Center, Jining Maternal and Child Health Care Hospital, Jining 272004, China; Newborn Screening Center, Jinan Maternal and Child Health Care Hospital, Jinan 250001, China; Department of Endocrinology and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou 450006, China; Heze Maternity and Child Healthcare Hospital, Heze 274032, China; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang 110004, China
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