Results 101 to 110 of about 29,070 (238)

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

An unusual presentation of neurononopathic gauchers disease. [PDF]

, 2013
A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities.
Chand, Prem, Habib, Bushra, Ibrahim, Shahnaz, jan, Farida   +3 more
core   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Torsion of a wandering spleen in an adolescent with Gaucher disease

The Turkish Journal of Gastroenterology, 2017
A wandering spleen is a rare condition characterized by the malposition of the spleen due to laxity or absence of its supporting ligaments. Although Gaucher disease generally presents with massive splenomegaly, which one of the predisposing causes of a ...
Şükrü Güngör, Mehmet Öztürk, Fatma İlknur Varol, Ahmet Sığırcı, Mukadder Ayşe Selimoğlu   +4 more
doaj   +1 more source

Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat [PDF]

, 2014
Objective: Eliglustat is an investigational oral substrate reduction therapy for Gaucher disease type 1 (GD1). Its skeletal effects were evaluated by prospective monitoring of bone mineral density (BMD), fractures, marrow infiltration by Gaucher cells ...
Aguzzi, Rasha, Arreguin, Elsa Avila, Dragosky, Marta, Kamath, Ravi S., Lukina, Elena, Norfleet, Andrea M., Pastores, Gregory M., Peterschmitt, M. Judith, Puga, Ana Cristina, Rosenbaum, Hanna, Rosenthal, Daniel I., Watman, Nora, Zimran, Ari   +12 more
core   +1 more source

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein, Carla E. Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Beth L. Thurberg, Jesus Villarrubia, Nicole M. Armstrong, Shashi Bhushan, Yong Kim, Monica Kumar   +20 more
wiley   +1 more source

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease

JIMD Reports, Volume 67, Issue 3, May 2026.
Genetic prevalence study of glycogen storage disease type IV. In collaboration with the Rare Genomes Project at the Broad Institute of MIT and Harvard and the APBD Research Foundation, this study queried and curated variants in GBE1 from ClinVar, HGMD, and gnomAD to calculate the genetic prevalence of glycogen storage disease type IV (GSD IV).
Rebecca L. Koch, H. Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T. Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, Samantha Baxter   +13 more
wiley   +1 more source

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes

Orphanet Journal of Rare Diseases
Background Gaucher disease (GD) is a lysosomal disease caused by mutations in the GBA1 gene, leading to glucosylceramide and glucosylsphingosine accumulation.
Sebile Kilavuz, Kerri-Lee Wallom, Ana Catarina Gomes Almeida Augusto Caçote, Aimée Donald, Simona D’Amore, Kathy Page, Chong Yew Tan, Danielle te Vruchte, Andrea Sturchio, Panagiota Tsitsi, Ellen Hertz, Mattias Andréasson, Ioanna Markaki, Per Svenningsson, Timothy M. Cox, Frances M. Platt, the MRC GAUCHERITE Consortium   +16 more
doaj   +1 more source

Clinical Features And Laboratory Patterns In A Cohort Of Consecutive Argentinian Patients With Von Willebrand's Disease [PDF]

, 2001
Background and Objectives. von Willebrand's disease (vWD) is a bleeding disorder with variable clinical expression. Our aim was to classify patients with vWD and to determine the phenotype in their relatives. Design and Methods.
Blanco, A. N., Farias, Cristina Elena, Kempfer, Ana Catalina, Lazzari, María Ángela, Meschengieser, S. S., Salviu, M. J., Woods, Adriana Inés   +6 more
core  

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source