Research Articleposted 2025-12-25 10:44:45
Navigating Adulthood with Maple Syrup Urine Disease: Patient and Caregiver Perspectives on Healthcare Transition and Independent Living
Jessica I Gold, Megan Grabill, Karen Dolins, Meliss Basile, Bat-Zion Hose, Rebecca Ganetzky
Under Review
at
Research Articleposted 2025-12-16 11:08:10
Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy
Jessica Roberts, Abby Tang, Daniela Hernandez, Brianna Carman, Liam Oiknine, Cris Brown, Stacy Hurst, and 2 more authors
Under Review
at
Research Articleposted 2025-12-11 00:42:04
Wild-type transthyretin cardiac amyloidosis: the journey to diagnosis in the Czech Republic
Barbora Chocholova, Ivana Weislova, Hana Poloczkova, Eniko Marczibal, Renata Aiglova, Milos Kubanek, Jan Krejci, and 1 more authors
Under Revision
at
Research Articleposted 2025-12-01 08:11:59
Caregiver Stress and Coping Ability in Relation to Hyperphagia Among individuals with Prader–Willi Syndrome
Minwhae Choi, Eujin Choi, Eun Kyung Kwon, Myeongin Kim, Yoon Ji Ahn, Insung Kim, Minji Kim, and 3 more authors
Under Review
at
Research Articleposted 2025-12-01 07:43:13
New variants of Wolfram syndrome (WS) in an Ecuadorian population. The “Valdivia Project”. A Cross-Sectional Study.
Josefa Palacio, Maria Verdesoto, Noemí Bautista, Abigail Segura, Roberto Cedeño, Nancy Flores, Juan Zevallos
Under Review
at
Research Articleposted 2025-12-01 07:03:26
Psychological symptoms in individuals with Spinal Muscular Atrophy (SMA) and their caregivers – results from a nation-wide study in Germany
Justine Hussong, Berenike Leibrock, Tabea Huelle, Hannah Mattheus, Erik Landfeldt, Simone Thiele, Maggie C. Walter, and 4 more authors
Under Review
at
Research Articleposted 2025-11-30 23:28:02
Craniosynostosis in Children with X-Linked Hypophosphatemia Treated with Burosumab: Insights from a Single Center Cross-sectional Cohort Screening
Francesca Aiello, Francesca Romano, Adalgisa Festa, Giampiero Baroncelli, Giuseppe Cinalli, Mario Cirillo, Renata Conforti, and 3 more authors
Under Review
at
Research Articleposted 2025-11-26 16:31:17
Parents’ experiences of condition management in children born with esophageal atresia-tracheoesophageal fistula during their early childhood
Michaela Dellenmark-Blom, Lianne Cole, Rosella Micalizzi, John Bennett, Kaylee Woods, Lauren Cardoni, Leah Frain, and 6 more authors
Under Review
at
Research Articleposted 2025-11-24 16:43:35
Design, Development, and Implementation of India’s National Registry for Rare and Other Inherited Disorders
Almas ., Amlin shukla, Garima Goel, Madhulika Kabra, Neerja Gupta, Renu Saxena, Sheffali Gulati, and 68 more authors
Under Review
at
Research Articleposted 2025-11-18 23:49:25
Inherited Metabolic Disorder-Related Genes and Mutation Spectrum in Iranians: An 11-Year Analysis Using Next-Generation Sequencing and Sanger Sequencing
Parnian Alagha, Negar Molaei, Maryam Beheshtian, Fatemeh Ahangari, Shima Dehdahsi, Mahsa Fadaee, Mehri Ashki, and 33 more authors
Under Review
at