Paper Review Records
All Paper Review Records
24 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
89
days
Associations Between Sensory Processing and Irritability in Prader–Willi Syndrome: Beyond Genetic Subtypes and Clinical Backgrounds
Authors
Erina Nakane; Hiroyuki Ogata; Sohei Saima; Chuichi Kondo; Masaki Seki; Yuji Oto; Hiroshi IharaShow moreShow less
Affiliations
1. Department of Psychiatry Dokkyo Medical University Saitama Medical Center Koshigaya Saitama Japan; 2. Department of Psychiatry Ikezawa Shinkeika Hospital Hanyuu Saitama Japan; 3. Department of Psychiatry Okute Hospital Mizunami Gifu Japan; 4. Department of Pediatrics Dokkyo Medical University Saitama Medical Center Koshigaya Saitama JapanShow moreShow less
168
days
Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study
Authors
Thomas Gehin; Malika Foy; Robert Carlier; Valentin Renault; Karelle BenistanShow moreShow less
Affiliations
1. AP‐HP, DMU Smart Imaging, Raymond Poincaré University Hospital Garches France; 2. AP‐HP, Ehlers‐Danlos Syndrome Referral Center, Raymond Poincaré University Hospital Garches France; 3. UR20261, PHARMAcoligo, Paris‐Saclay University, UVSQ Versailles FranceShow moreShow less
51
days
Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐ CoA Dehydrogenase Deficiency ( LCHADD ) Explained by Three Allelic Products From Two Pathogenic Variants
Authors
Yutaka Furuta; Lynette C. Rives; T. Andrew Burrow; Thomas A. Cassini; Rory J. Tinker; Amy K. Robertson; Kimberly M. Ezell; Rizwan Hamid; Joy D. Cogan; John A. PhillipsShow moreShow less
Affiliations
1. Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA; 2. Section of Genetics and Metabolism, Department of Pediatrics University of Arkansas for Medical Sciences, College of Medicine Little Rock Arkansas USA; 3. Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USAShow moreShow less
62
days
Early‐Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 Deficiency
Authors
Sabire Gokalp; Elif Guler; Mustafa KilicShow moreShow less
Affiliations
1. Department of Pediatric Metabolic Disorders Etlik City Hospital, University of Health Science Ankara TürkiyeShow moreShow less
67
days
Resolution of Refractory Multifocal Atrial Tachycardia in C ostello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic
Authors
Vanina Taliercio; Annabelle Wilcox; Stacey Cole; Josue Flores Daboub; José E. Morales Moreno; Kasey G. Andrews; S. Yukiko Asaki; Thomas A. Pilcher; Martin Tristani‐Firouzi; Mary C. Niu; David Viskochil; Benjamin HammondShow moreShow less
Affiliations
1. Department of Pediatrics, Division of Medical Genetics University of Utah Salt Lake City Utah USA; 2. Department of Pediatrics, Division of General Pediatrics University of Utah Salt Lake City Utah USA; 3. Department of Pediatrics, Division of Cardiology University of Utah Salt Lake City Utah USAShow moreShow less
88
days
Response of an Infant With Presumed Multiple Acyl‐ CoA Dehydrogenase Deficiency ( MADD ) to Ketone Supplementation
Authors
Yutaka Furuta; Kaitlyn N. Bloom; Jerry Vockley; Angela R. Grochowsky; Neena S. Agrawal; Ellen W. Strickler; Natalie N. Owen; Erica T. Gray; B. Lakshitha A. Perera; Eric R. Gamazon; Lynette C. Rives; Hua‐Chang Chen; Qi Liu; Rizwan Hamid; Joy D. Cogan; John A. Phillips; Thomas A. Cassini; Bryce A. SchulerShow moreShow less
Affiliations
1. Department of Pediatrics, Division of Medical Genetics and Genomic Medicine Vanderbilt University Medical Center Nashville Tennessee USA; 2. Department of Pediatrics, Division of Genetic and Genomic Medicine University of Pittsburgh School of Medicine Pittsburgh Pennsylvania USA; 3. Department of Medicine, Division of Genetic Medicine and Clinical Pharmacology Vanderbilt University Medical Center Nashville Tennessee USA; 4. Department of Biostatistics Vanderbilt University Medical Center Nashville Tennessee USAShow moreShow less
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