Results 111 to 120 of about 1,300 (164)

Artificial intelligence (AI) in rare diseases: is the future brighter? [PDF]

, 2019
The amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. Artificial intelligence (AI), with an emphasis on deep learning, holds
Brasil, Sandra, Ferreira, Vanessa dos Reis, Francisco, Rita, Pascoal, Carlota, Valadão Matias, Gonçalo, Videira, P A   +5 more
core   +2 more sources

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG [PDF]

, 2019
Contains fulltext : 208143.pdf (publisher's version ) (Open ...
Alsady, Mohammad, Georgiadou, Elissavet, Huijben, Karin, Lefeber, Dirk J, Michelakakis, Helen, Moraitou, Marina, Papadimas, George K, Papadopoulos, Constantinos, Van den Bergh, Peter, van Tol, Walinka, Willemsen, Michèl A   +10 more
core   +1 more source

Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management

Clinical Endocrinology, Volume 101, Issue 5, Page 562-568, November 2024.
Adrian H. Heald, John Bassett, Nuria Puente‐Ruiz, Peter Clayton, Karolina M. Stepien   +4 more
wiley   +1 more source

Cardiomyopathy, an Uncommon Phenotype of Congenital Disorders of Glycosylation: Recommendations for Baseline Screening and Follow-Up Evaluation [PDF]

Introduction: Congenital disorders of glycosylation (CDG) are a continuously expanding group of monogenic disorders that disrupt glycoprotein and glycolipid biosynthesis, leading to multi-systemic manifestations.
Berger, Justin H, Edmondson, Andrew C, Hope, Kyle D, Lam, Christina, Larson, Austin, Morava, Eva, Patino, Maria, Sarafoglou, Kyriakie, Scaglia, Fernando, Shah, Rameen, Yesso, Abigail M, Zemet, Roni   +11 more
core   +2 more sources

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

Neuropediatrics, 2018
Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively assesses fluency and clarity of speech with two items.
Debora Coritza Itzep Perez, Martinez-Monseny T, Bolasell M, Cuadras-Palleja D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M   +8 more
openaire   +4 more sources

Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation [PDF]

PMM2-CDG, a disease caused by mutations in phosphomannomutase-2, is the most common congenital disorder of glycosylation. Yet, it still lacks a cure. Targeting phosphomannomutase-2 with pharmacological chaperones or inhibiting the phosphatase activity of
Andreotti, Giuseppina, Cubellis, Maria Vittoria, Guerriero, Simone, Mele, Bruno Hay, Monticelli, Maria, Wright, Demi Marie   +5 more
core   +1 more source

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. [PDF]

Mol Genet Metab, 2023
Hong X, Edmondson AC, Strong A, Pomerantz D, Michl E, Berry G, He M.   +6 more
europepmc   +1 more source

N-glycosylation as a regulatory process in the IGF-1 system: from mechanisms to clinical implications [PDF]

, 2020
open1nobiocellembargoed_20211221Di Patria, LauraDi Patria ...

core  

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
PMM2-CDG (MIM # 212065), the most common congenital disorder of glycosylation, is caused by the deficiency of phosphomannomutase 2 (PMM2). It is a multisystemic disease of variable severity that particularly affects the nervous system; however, its molecular pathophysiology remains poorly understood. Currently, there is no effective treatment.
Gallego, Diana, Serrano, Mercedes, Cordoba-Caballero, Jose, Gámez, Alejandra, Seoane, Pedro, Perkins, James R., Ranea, Juan A.G., Pérez, Belén   +7 more
openaire   +4 more sources

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

Molecular Genetics and Metabolism Reports
Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia.
Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma   +10 more
doaj   +1 more source