Zobrazeno 1 - 10
of 3 226
pro vyhledávání: '"Lysosomal storage disorders"'
Autor:
Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)
Abstract Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha
Externí odkaz:
https://doaj.org/article/dea8e376910644618a67679fbc33812e
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Abstract Background Lysosomal storage diseases (LSDs) are a group of rare inherited metabolic disorders, consisting of over 70 diseases that are characterised by lysosomal dysfunction. Due to their varied and progressive symptoms, LSDs have a continu
Externí odkaz:
https://doaj.org/article/10635372c2a74cc2a69b42be6d8f72f7
Autor:
Barry J. Byrne, Giancarlo Parenti, Benedikt Schoser, Ans T. van der Ploeg, Hung Do, Brian Fox, Mitchell Goldman, Franklin K. Johnson, Jia Kang, Nickita Mehta, John Mondick, M. Osman Sheikh, Sheela Sitaraman Das, Steven Tuske, Jon Brudvig, Jill M. Weimer, Tahseen Mozaffar
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Enzyme replacement therapy (ERT) is the only approved disease-modifying treatment modality for Pompe disease, a rare, inherited metabolic disorder caused by a deficiency in the acid α-glucosidase (GAA) enzyme that catabolizes lysosomal glycogen. Fir
Externí odkaz:
https://doaj.org/article/80f9631db5ec471a9488eaff38c0f152
Autor:
Vera Gallo, Alessandro Aiuti
Publikováno v:
Global Pediatrics, Vol 9, Iss , Pp 100196- (2024)
Nowadays, gene therapy hast the potential to cure an increasingly greater number of monogenic inherited disorders with absent or limited treatment options, and radically change their natural history. Hematopoietic stem cells (HSCs) represent one of t
Externí odkaz:
https://doaj.org/article/273f6e1a82a44028a275bf205d8006d5
Autor:
Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)
Abstract Background Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly due to overlapping cl
Externí odkaz:
https://doaj.org/article/8292fe789fb04f60a6890327d1f87871
Autor:
Natalja Haninger-Vacariu, Kyra Anastopoulos, Christof Aigner, Raute Sunder-Plassmann, Constantin Gatterer, Markus Ponleitner, Gere Sunder-Plassmann, Alice Schmidt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Pregnancy and delivery outcomes in women with Fabry disease are not well described. Methods Retrospective cohort-study of women with Fabry disease in Austria using a specific questionnaire and the Austrian Mother–Child Health Pa
Externí odkaz:
https://doaj.org/article/78fb8239d6ee479cb7615ca75a0de611
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 124-131 (2024)
Abstract Lysosomal storage disorders (LSDs) are predominantly enzyme deficiencies leading to substrate accumulation, causing progressive damage to multiple organs. To date, a crucial part of diagnosing LSDs is measuring enzymatic activity in leucocyt
Externí odkaz:
https://doaj.org/article/716dfafd6e03427f86bf8a4ecd5b9efa
Autor:
Paschalis Nicolaou
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/262960a8a6fd4cde91efa952425a3f93
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Objectives To describe Niemann-Pick type C (NP-C) behavioral symptoms (focusing on psychotic symptoms) and its relation to frontal lobe functioning. Methods We retrospectively reviewed medical charts of NP-C-patients followed in the Lysosoma
Externí odkaz:
https://doaj.org/article/0c75d7ce2eda454989ef792d6ca60bef
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101019- (2023)
Neuronal ceroid lipofuscinosis type1(CLN1), is a one form of the group of neuronal ceroid lipofuscinoses (NCLs), which is a neurodegenerative disorder characterized by progressive psychomotor deterioration, ataxia, epilepsy, and visual impairment. Ne
Externí odkaz:
https://doaj.org/article/f2ab642ae0ed4edf9000bdf25e7d8674