Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot –Marie–Tooth type 1A
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 1, 2024 Category: Internal Medicine Authors: Shahram Attarian, Peter Young, Thomas H. Brannagan, David Adams, Philip Van Damme, Florian P. Thomas, Carlos Casanovas, Jafar Kafaie, C éline Tard, Maggie C. Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amat Tags: Correction Source Type: research
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
Limb Girdle Muscular Dystrophy R1 (LGMDR1) is an autosomal recessive neuromuscular disease caused by mutations in the calpain-3 (CAPN3) gene. As clinical and pathological features may overlap with other types of ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 1, 2024 Category: Internal Medicine Authors: Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma and Manoj K Goyal Tags: Research Source Type: research
The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology
Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 28, 2024 Category: Internal Medicine Authors: Hemmo A.F. Yska, Marc Engelen and Marianna Bugiani Tags: Review Source Type: research
Correction: A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 28, 2024 Category: Internal Medicine Authors: Micha ł Nowicki, Stanisława Bazan‑Socha, Beata Błażejewska‑Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia‑Stec, Zofia Oko‑Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec an Tags: Correction Source Type: research
Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 26, 2024 Category: Internal Medicine Authors: Luciana Gizzo, Geraldine Bliss, Chrystal Palaty and Alexander Kolevzon Tags: Research Source Type: research
Moderate- to vigorous-intensity physical activities for hemophilia A patients during low-dose pharmacokinetic-guided extended half-life factor VIII prophylaxis
Low-dose pharmacokinetic (PK)-guided extended half-life (EHL) factor VIII (FVIII) prophylaxis can reduce the bleeding risk in hemophilia A (HA) patients. An increase in physical activities for promoting muscul... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 26, 2024 Category: Internal Medicine Authors: Chonlatis Srichumpuang, Arunothai Rakmanotham, Chatphatai Moonla and Darintr Sosothikul Tags: Research Source Type: research
Sonographic characteristics of diffuse sclerosing variant of papillary thyroid carcinoma with histopathological correlation: a preliminary study
Diffuse sclerosing variant of papillary thyroid carcinoma (DSVPTC) is a rare but high invasive subtype of papillary thyroid carcinoma, which mandates an aggressive clinical strategy. Few studies have focused o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 26, 2024 Category: Internal Medicine Authors: Wanying Li, Ying Wang, Luying Gao, Ruie Feng, Ke Lv, Xining Wu, Xiao Yang, Sheng Cai, Hongyan Wang and Jianchu Li Tags: Research Source Type: research
Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit
Lymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly based upon evidence obtained from patients with sporadic LAM. We performed a prospective... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 26, 2024 Category: Internal Medicine Authors: Jan Johnson, Wendy Somerfield and Simon R. Johnson Tags: Research Source Type: research
Intraoperative mechanical ventilation and incidence of pneumothorax in lymphangioleiomyomatosis
Patients with lymphangioleiomyomatosis (LAM) are considered high risk for most surgeries and require specific anesthetic considerations mainly because of the common spontaneous pneumothorax (PTX). To explore w... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 23, 2024 Category: Internal Medicine Authors: Chen Sun, Lijian Pei, Chongsheng Cheng, Bing Bai, Kai-Feng Xu and Yuguang Huang Tags: Letter to the Editor Source Type: research
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers
Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals ’ quality of life (QoL) and can be associated with increased healthcar... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 21, 2024 Category: Internal Medicine Authors: Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince and Frank Rauch Tags: Research Source Type: research
Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families. Despite... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 21, 2024 Category: Internal Medicine Authors: L. Johansen, F. O ’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelenstov, L. S. Kearns and K. L. Galvin Tags: Research Source Type: research
Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools
Alpha 1 Antitrypsin Deficiency (AATD) is a rare, inherited lung disease which shares features with Chronic Obstructive Pulmonary Disease (COPD) but has a greater burden of proteinase related tissue damage. The... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 21, 2024 Category: Internal Medicine Authors: E. Sapey, L. E. Crowley, R. G. Edgar, D. Griffiths, S. Samanta, H. Crisford, C. E. Bolton, J. R. Hurst and R. A. Stockley Tags: Research Source Type: research
Correction to: Analysis of the first ten years of FDA ’s rare pediatric disease priority review voucher program: designations, diseases, and drug development
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 21, 2024 Category: Internal Medicine Authors: Catherine Mease, Kathleen L. Miller, Lewis J. Fermaglich, Jeanine Best, Gumei Liu and Erika Torjusen Tags: Correction Source Type: research
Clinicopathological features and surgical procedures of adnexal masses with abdominal pain in pediatric and adolescent patients
This study investigated the clinicopathological features and surgical procedures of adnexal masses with abdominal pain in pediatric and adolescent patients. Our objective was to better define the clinical pres... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 21, 2024 Category: Internal Medicine Authors: Qian Liu, Zhiqiang Li, Huimei Zhou, Dongyan Cao, Jiaxin Yang, Keng Shen and Jinghe Lang Tags: Research Source Type: research
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia
In this study, the clinical manifestations and m... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 19, 2024 Category: Internal Medicine Authors: Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su and Chun-xiu Gong Tags: Research Source Type: research
