Results 1 to 10 of about 2,774 (200)

A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum [PDF]

Frontiers in Genetics, 2022
Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent
Priya S Kishnani, Kishnani Priya S
exaly   +6 more sources

Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3 [PDF]

Case Reports in Genetics
Uniparental disomy (UPD), the inheritance of two copies of a chromosome from one parent, can lead to recessive genetic disorders or imprinting effects. We report a case of autosomal recessive glycogen storage disease type 4 (GSD IV) due to maternal UPD ...
Sigrid Skovby Olsen, Anja Ernst, Pia Sønderby Christensen, Ellen Dagmar Björnsdóttir, Lasse Ringsted Mark, Albert Vejlin Stefansen, Allan Thomas Højland   +6 more
doaj   +3 more sources

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study

Biomedicines, 2023
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ranges
Matheus Vernet Machado Bressan Wilke, Bibiana Mello de Oliveira, Rodrigo Tzovenos Starosta, Marwan Shinawi, Liang Lu, Mai He, Yamin Ma, Janis Stoll, Carolina Fischinger Moura de Souza, Ana Cecilia Menezes de Siqueira, Sandra Maria Gonçalves Vieira, Carlos Thadeu Cerski, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz   +13 more
doaj   +3 more sources

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

Orphanet Journal of Rare Diseases, 2022
Background Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme.
Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici, Arianna Maiorana   +3 more
doaj   +3 more sources

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 [PDF]

JIMD Reports
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in GBE1, resulting in deficient glycogen branching enzyme (GBE) activity and formation of abnormal glycogen (“polyglucosan”).
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
doaj   +2 more sources

An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV

Children, 2023
Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated ...
Handan Bezirganoglu, Kubra Adanur Saglam
doaj   +2 more sources

Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia. [PDF]

PLoS ONE
Background and objectivesThe paucity of data on glycogen storage diseases (GSDs) from Arabs prompted us to report on hepatic GSD to characterize its clinical and molecular features and outcomes among Saudi children and to evaluate genotype‒phenotype ...
Abdulrahman Al-Hussaini, Mohammed AlMannai, Muhannad Alruwaithi, Eissa Faqeih, Ali Alasmari, Majid Alfadhel, Fuad Al Mutairi, Mohammed Saleh, Abdullah AlZaben, Yaser Alobailan, Moodhi Alharbi, Manal AlAfqi, Alaa Alayed, Abdul Ali Peer-Zada, Yasir Alrusayni   +14 more
doaj   +2 more sources

Clinical features and rare complications in 132 patients with hepatic glycogenosis [PDF]

Orphanet Journal of Rare Diseases
Background Glycogen storage diseases (GSDs) with liver involvement are classified into subtypes—types 0, Ia, and Ib; III, IV, VI, IX, and XIa, XIb, and XIc, depending on the deficient enzyme. Hypoglycemia and hepatomegaly (except type 0) are hallmarks of
Deniz Kor, Fatma Derya Bulut, Burcu Köşeci, Esra Kara, Ezgi Burgaç, İrem Kaplan, Nazmiye Tüzel Gündüz, Halise Neslihan Önenli Mungan   +7 more
doaj   +2 more sources

Liver Transplantation for Glycogen Storage Disease Type IV

Frontiers in Pediatrics, 2021
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen–branching enzyme (GBE) deficiency, leading to accumulation of amylopectin–like glycogen that may damage affected tissues.
Min Liu, Min Liu, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun   +4 more
doaj   +1 more source

Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene

Frontiers in Genetics, 2022
Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the liver, neuromuscular, and cardiac systems.
Yiyang Li, Yiyang Li, Yiyang Li, Chuan Tian, Si Huang, Weijie Zhang, Weijie Zhang, Qiuyu Liutang, Qiuyu Liutang, Yajun Wang, Yajun Wang, Guoda Ma, Guoda Ma, Riling Chen, Riling Chen   +14 more
doaj   +1 more source