المؤلفون: Schoser, Benedikt, Kishnani, Priya, Bratkovic, Drago, Byrne, Barry, Claeys, Kristl, Díaz-Manera, Jordi, Laforêt, Pascal, Roberts, Mark, Toscano, Antonio, van der Ploeg, Ans, Castelli, Jeff, Goldman, Mitchell, Holdbrook, Fred, Sitaraman Das, Sheela, Wasfi, Yasmine, Mozaffar, Tahseen

المصدر: Journal of Neurology. 271(5)

مصطلحات موضوعية: n-butyldeoxynojirimycin, Alpha glucosidase, Glycogen storage disease type II, Lysosomal storage disorders, Myozyme, Humans, Male, Female, Glycogen Storage Disease Type II, Middle Aged, Adult, 1-Deoxynojirimycin, Double-Blind Method, Enzyme Replacement Therapy, alpha-Glucosidases, Drug Therapy, Combination, Treatment Outcome, Aged, Enzyme Inhibitors

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5553z003

المؤلفون: Chakraborty, Soumalya, Gupta, Aditya Kumar, Gupta, Neerja, Meena, Jagdish Prasad, Seth, Rachna, Kabra, Madhulika^{Aff1, IDs12098024051104_cor6}

المصدر: Indian Journal of Pediatrics. 91(8):830-838

المؤلفون: Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta

المصدر: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)

مصطلحات موضوعية: Pompe disease, Enzyme replacement therapy (ERT), Acid alpha-glucosidase (GAA), Lysosomal storage disorders, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/dea8e376910644618a67679fbc33812e

المؤلفون: Emily McDool, Philip Powell, Jill Carlton

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)

مصطلحات موضوعية: Patient reported outcome measures (PROMs), Health-related quality of life (HRQoL), Lysosomal Storage Disorders (LSDs), Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/10635372c2a74cc2a69b42be6d8f72f7

المؤلفون: 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

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)

مصطلحات موضوعية: Lysosomal storage disorders, smMIP probes, Dried blood spot, Diagnostic yield, Cost effective, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/8292fe789fb04f60a6890327d1f87871

المؤلفون: Hamritha Ashokkumar, K Sundar Natesh, Vaanmathi Azhagar Nambi Santhi, K Vidhyasagar, Akshai Krishnan

المصدر: Journal of Clinical and Diagnostic Research, Vol 18, Iss 05, Pp 07-09 (2024)

مصطلحات موضوعية: hepatomegaly, hypophosphatemia, glycogen storage disorders, rickets, Medicine

وصف الملف: electronic resource

Relation: https://jcdr.net/articles/PDF/19453/70909_CE[Ra1]_F(IS)_QC_REF_PAT(SD_IS)_PF1(AG_DK)_PFA(SS)_PB(AG_OM)_PN(OM).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X

URL الوصول: https://doaj.org/article/4687aef10a5847f89f16961defadf8ce

المؤلفون: Natalja Haninger-Vacariu, Kyra Anastopoulos, Christof Aigner, Raute Sunder-Plassmann, Constantin Gatterer, Markus Ponleitner, Gere Sunder-Plassmann, Alice Schmidt

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Fabry disease, Pregnancy, Pregnancy outcomes, Delivery outcomes, Pregnancy counselling, Lysosomal storage disorders, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/78fb8239d6ee479cb7615ca75a0de611

المؤلفون: Rohit Hirachan, Alistair Horman, Derek Burke, Simon Heales

المصدر: JIMD Reports, Vol 65, Iss 2, Pp 124-131 (2024)

مصطلحات موضوعية: digital microfluidics, dried blood spot, Fabry disease, Gaucher disease, lysosomal storage disorders, mucopolysaccharidosis I, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/716dfafd6e03427f86bf8a4ecd5b9efa

المؤلفون: Paschalis Nicolaou

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: neuronal ceroid lipofuscinosis, batten disease, NCLs, lysosomal storage disorders, molecular genetics, epigenetics, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1430703/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/262960a8a6fd4cde91efa952425a3f93

المؤلفون: Vera Gallo, Alessandro Aiuti

المصدر: Global Pediatrics, Vol 9, Iss , Pp 100196- (2024)

مصطلحات موضوعية: Gene therapy, Primary immunodeficiencies, Haemoglobinopathies, Lysosomal storage disorders, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667009724000642; https://doaj.org/toc/2667-0097

URL الوصول: https://doaj.org/article/273f6e1a82a44028a275bf205d8006d5