Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry: new modeling of real-world data from the Pompe Registry

Authors: Kenneth I. Berger, Yin‐Hsiu Chien, Alberto Dubrovsky, Priya S. Kishnani, Juan Clinton Llerena, Edward Neilan, Mark S. Roberts, Bun Sheng, Julie L. Batista, Magali Periquet, Kathryn M. Wilson, Ans T. van der Ploeg

Source: J Neurol

Subject Terms: Adult, Male, Vital capacity, Adolescent, Physiology, Vital Capacity, Pediatrics, Behavioral Treatment, Young Adult, Rheumatology, Health Sciences, Humans, Enzyme Replacement Therapy, Registries, Child, Internal medicine, Lung, Diffusing capacity, 2. Zero hunger, Original Communication, Glycogen Storage Disease Type II, Confidence interval, alpha-Glucosidases, Middle Aged, Feeding Disorders in Children with Autism Spectrum Disorders, Lung function, 3. Good health, Psychiatry and Mental health, Glycogen Metabolism and Myoclonic Disorders, Child, Preschool, FOS: Biological sciences, Medicine, Female, Follow-Up Studies, Lysosomal Storage Disorders in Human Health and Disease

Access URL: https://pubmed.ncbi.nlm.nih.gov/38896264
https://pure.eur.nl/en/publications/36762756-1619-4cfb-b208-025e185c1d19
https://doi.org/10.1007/s00415-024-12489-9

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

Authors: Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward B. Cook, Javeria Raza Alvi, Hasnaa M. Elbendary, Jerry Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An‐Sofie Schoonjans, Matthias De Wachter, Iñaki Álvarez, Ana Felipe‐Rucián, Nourelhoda A. Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P. Prabhu, Klaske D. Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy D. Jones, Eleanor Hay, Sanjay Bhate, Thomas S. Jacques, David M. Mirsky, Matthew T. Whitehead, Maha S. Zaki, Tipu Sultan, Pasquale Striano, Anna C. Jansen, Maarten H. Lequin, Linda S. de Vries, Mariasavina Severino, Andrew C. Edmondson, Lara Menzies, Philippe M. Campeau, Henry Houlden, Amy McTague, Stéphanie Efthymiou, Kshitij Mankad

Contributors: Institut Català de la Salut, [Sidpra J] Developmental Biology and Cancer Section, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK. [Sudhakar S, Biswas A] Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. [Massey F] Unit of Functional Neurosurgery, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK. [Turchetti V, Lau T] Department of Neuromuscular Disorders, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK. [Delgado Alvarez I] Servei de Neuroradiologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Felipe-Rucián A] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Genetica Klinische Genetica, Child Health, MS Radiologie, Circulatory Health, MS Neonatologie, Radiology and Imaging Sciences, School of Medicine

Source: Brain
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Male, 0301 basic medicine, Developmental delay, Glycosylphosphatidylinositols, Physiology, Epidemiology, Developmental Disabilities, Epidemiology and Treatment of Chagas Disease, Global developmental delay, Intellectual disability, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Congenital Disorders of Glycosylation, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::trastornos congénitos de la glicosilación, Pediatrics, Gene, Trastorns del desenvolupament, Genetic heterogeneity, Congenital Disorders of Glycosylation, 0302 clinical medicine, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Chitin Metabolism in Insects and Mammals, Congenital disorders of glycosylation, Disease, Hidrats de carboni - Metabolisme - Trastorns, Child, 10. No inequality, Internal medicine, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders::Developmental Disabilities, Psychiatry, 2. Zero hunger, neuroimaging, Cohort, Life Sciences, GPI, congenital disorders of glycosylation, developmental delay, epilepsy, neurodevelopmental disorder, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico::discapacidades del desarrollo, CHEMICALS AND DRUGS::Lipids::Glycolipids::Lipids::Glycosylphosphatidylinositols, 3. Good health, Fenotip, Phenotype, Child, Preschool, Medicine, Original Article, Female, Lysosomal Storage Disorders in Human Health and Disease, Adult, Other subheadings::Other subheadings::Other subheadings::/genetics, Adolescent, Natural history, Neuroimaging, Hypotonia, Young Adult, 03 medical and health sciences, Neurodevelopmental disorder, Seizures, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Health Sciences, Journal Article, Genetics, Humans, Molecular Biology, Biology, Retrospective Studies, Epilepsy, Infant, COMPUESTOS QUÍMICOS Y DROGAS::lípidos::glicolípidos::lípidos::glicosilfosfatidilinositoles, Glycosylphosphatidylinositol, Glicolípids, FOS: Biological sciences, Human medicine, Metabolisme, Errors congènits del, Atrophy

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38456468
https://hdl.handle.net/11351/11840
https://dspace.library.uu.nl/handle/1874/454832
https://hdl.handle.net/2434/1040506
https://doi.org/10.1093/brain/awae056
https://repository.uantwerpen.be/docstore/d:irua:25006
https://hdl.handle.net/10067/2077080151162165141

Baseline Characteristics of Fabry Disease 'Amenable' Migalastat Patients in Argentinian Cohort

Authors: Sebastián Jaurretche, S. Méndez Alonso, Mónica Calvo Pascual, Sebastián Fernandez, H. M. Figueredo, Beatriz Galli, Ivanna Marin, Andrés Martinez, Silvia Mattausch, Fernando Perretta, Juan Politei, Juliana Martínez Rolón, Esteban Calabrese

Source: Glob Health Epidemiol Genom
Global Health, Epidemiology and Genomics, Vol 2024 (2024)

Subject Terms: Adult, Male, 1-Deoxynojirimycin, Physiology, Epidemiology, Epidemiology and Treatment of Chagas Disease, Pain, Gene, FOS: Chemical sciences, Health Sciences, Genetics, Humans, Missense mutation, Disease, Internal medicine, Biology, 2. Zero hunger, Fabry disease, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, Cohort, 3. Good health, Chemistry, Phenotype, alpha-Galactosidase, FOS: Biological sciences, Enzyme replacement therapy, Physical Sciences, Medicine, Fabry Disease, Female, Public aspects of medicine, RA1-1270, Research Article, Lysosomal Storage Disorders in Human Health and Disease

File Description: text/xhtml

Access URL: https://pubmed.ncbi.nlm.nih.gov/38410281
https://doaj.org/article/54f524d81b274994b15b5d1a1d6e49d5

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

Authors: Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Neerja Bhardwaj, Harsh Sheth

Source: JIMD Rep
JIMD Reports, Vol 65, Iss 2, Pp 85-101 (2024)

Subject Terms: Glucocerebrosidase, Physiology, Epidemiology, Epidemiology and Treatment of Chagas Disease, Mucopolysaccharidosis I, Population, Age of onset, Lysosomal storage disease, Gaucher disease, QH426-470, Metachromatic leukodystrophy, Pediatrics, Diseases of the endocrine glands. Clinical endocrinology, Lysosomal Storage Disorders, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Pathology, Disease, Internal medicine, adult‐onset LSDs, 2. Zero hunger, Lysosomal Calcium Signaling in Physiology and Pathology, Fabry disease, Gaucher Disease, Life Sciences, Research Reports, Leukodystrophy, RC648-665, 3. Good health, Lysosomal Storage Diseases, p.Leu483pro, Environmental health, FOS: Biological sciences, Enzyme replacement therapy, Medicine, Lysosomal Storage Disorders in Human Health and Disease

Access URL: https://pubmed.ncbi.nlm.nih.gov/38444573
https://doaj.org/article/cdb338da0152491e98a3940c956fe97f

A Malaysian Case of Glycogen Storage Disease Type Vl

Authors: Rida Noor, Noor Azlin Azraini Che Soh@Yusof, Julia Omar, Rowani Mohd Rawi, Noorazliyana Shafii

Source: Malaysian Journal of Paediatrics and Child Health. 29:1-4

Subject Terms: Physiology, Biopsy, Health Professions, Pharmacy, Pediatrics, Gene, Proband, Glycogen storage disease type I, Endocrinology, Rheumatology, Lysosomal Storage Disorders, Health Sciences, Genetics, Missense mutation, Internal medicine, Biology, Glycogen storage disease, Compound heterozygosity, Abdominal distension, Risk Factors for Gingival Overgrowth in Medication Use, Gastroenterology, Liver biopsy, 3. Good health, Glycogen Metabolism and Myoclonic Disorders, FOS: Biological sciences, Mutation, Medicine, Glycogen Storage Diseases, Glycogen, Lysosomal Storage Disorders in Human Health and Disease

Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry

Authors: Elizabeth Braunlin, Luisa Bay, Nathalie Guffon, Meng Yang, Nicolas Pangaud, Lorne A. Clarke

Source: Cardiology in the Young. 34:401-411

Subject Terms: Radiology, Nuclear Medicine and Imaging, Ejection fraction, Physiology, Epidemiology, Cardiomyopathy, Mucopolysaccharidosis I, Epidemiology and Treatment of Chagas Disease, Heart Valve Diseases, Cardiology, Natural history, Heart failure, Constriction, Pathologic, Diastole, Health Sciences, Mitral valve, Humans, Disease, Registries, Regurgitation (circulation), Child, Internal medicine, Retrospective Studies, Mitral regurgitation, Diagnosis and Treatment of Patent Ductus Arteriosus, Mucopolysaccharidosis type I, Infant, Mucopolysaccharidoses, 3. Good health, Mucopolysaccharidosis, FOS: Biological sciences, Enzyme replacement therapy, Blood pressure, Medicine, Hurler syndrome, Lysosomal Storage Disorders in Human Health and Disease

Access URL: https://pubmed.ncbi.nlm.nih.gov/37850463

Neuronal ceroid lipofuscinosis: A case report

Authors: Gopen Kumar Kundu, Md. Shamim Akhter, Sanjida Ahmed, Bishnu Pada Dey, Shah Noor Hassan

Source: Bangabandhu Sheikh Mujib Medical University Journal, Vol 16, Iss 3 (2023)

Subject Terms: Batten disease, Physiology, Neuronal Ceroid Lipofuscinoses, Pediatrics, Magnetic resonance imaging, Lysosomal Storage Disorders, Biochemistry, Genetics and Molecular Biology, Health Sciences, Pathology, Psychology, Disease, skin biopsy, 2. Zero hunger, Lysosomal Calcium Signaling in Physiology and Pathology, Lysosomal Calcium Signaling, Life Sciences, Cell Biology, 3. Good health, Lysosomal Storage Diseases, Neuronal ceroid lipofuscinosis, FOS: Psychology, lysosomal storage disease, Mechanisms of Intracellular Membrane Trafficking, FOS: Biological sciences, Medicine, neuronal ceroid lipofuscinosis, Radiology, Lysosomal Storage Disorders in Human Health and Disease, Neuroscience

Access URL: https://doaj.org/article/0bb4991ede0d4879bec20f4d1f231153

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease

Authors: Nesma M. Elaraby, Eman Reda Galal, Mohamed S. Abdel‐Hamid, Hasnaa M. Elbendary, Mohamed Elbadry, Mona K. Mekkawy, Neveen A. Ashaat, Samir Mounir, Engy A. Ashaat

Source: J Mol Neurosci

Subject Terms: Sanger sequencing, Genotype, Physiology, Gene, Rheumatology, Lysosomal Storage Disorders, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Humans, Missense mutation, Disease, DNA sequencing, Biology, Internal medicine, Hepatosplenomegaly, Research, In silico, Wolman Disease, Life Sciences, Lipase, Cell Biology, 3. Good health, Phenotype, Mechanisms of Intracellular Membrane Trafficking, Glycogen Metabolism and Myoclonic Disorders, FOS: Biological sciences, Mutation, Medicine, Egypt, Lysosomal Storage Disorders in Human Health and Disease

Access URL: https://pubmed.ncbi.nlm.nih.gov/37470904

Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?

Authors: Sundus Abdul Ghani, Sheeba Burney, Hassan ul Hussain, Maryam Abdul Wahid, Hassan Mumtaz

Source: Int J Surg

Subject Terms: 0301 basic medicine, Physiology, Epidemiology, Clinical significance, Epidemiology and Treatment of Chagas Disease, Hematopoietic stem cell transplantation, Pediatrics, 03 medical and health sciences, Cognition, 0302 clinical medicine, alpha-Mannosidase, FOS: Chemical sciences, Lysosomal Storage Disorders, Correspondence, Health Sciences, Humans, Enzyme Replacement Therapy, Disease, Intensive care medicine, Child, Internal medicine, Bone Marrow Transplantation, Transplantation, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, 3. Good health, Clinical trial, Chemistry, FOS: Biological sciences, Enzyme replacement therapy, alpha-Mannosidosis, Physical Sciences, Medicine, Lysosomal Storage Disorders in Human Health and Disease

Access URL: https://pubmed.ncbi.nlm.nih.gov/37352513

Phosphatidylinositol-3,4,5-trisphosphate interacts with alpha-synuclein and initiates its aggregation and formation of Parkinson’s disease-related fibril polymorphism

Authors: Chi‐Jing Choong, César Aguirre, Keita Kakuda, Goichi Beck, Hiroki Nakanishi, Yasuyoshi Kimura, Shuichi Shimma, Kei Nabekura, Makoto Hideshima, Junko Doi, Keiichi Yamaguchi, Katsuaki Nakajima, Tomoya Wadayama, Hideki Hayakawa, Kousuke Baba, Kotaro Ogawa, Toshihide Takeuchi, Shaymaa Mohamed Mohamed Badawy, Shigeo Murayama, Seiichi Nagano, Yuji Goto, Yohei Miyanoiri, Yoshitaka Nagai, Hideki Mochizuki, Kazuhiro Ikenaka

Source: Acta Neuropathol

Subject Terms: Cell biology, Physiology, Parkinson's disease, Signal transduction, Biochemistry, Alpha-synuclein, Phosphatidylinositol Phosphates, Biochemistry, Genetics and Molecular Biology, Phosphatase, Health Sciences, Humans, Disease, Neurodegeneration, Phosphorylation, Biology, Internal medicine, Fibril, Neurons, a-Synuclein, Original Paper, Brain, Life Sciences, Parkinson Disease, Cell Biology, Lipids, Chemistry, Neurology, Mechanisms of Intracellular Membrane Trafficking, FOS: Biological sciences, alpha-Synuclein, Medicine, Phosphatidylinositol, Pathophysiology of Parkinson's Disease, Inositol, Lysosomal Storage Disorders in Human Health and Disease, Receptor

Access URL: https://pubmed.ncbi.nlm.nih.gov/36939875

Niemann Pick disease: a rare lysosomal storage disease

Authors: Gopen Kumar Kundu, Shaheda Anwar, Noor A Sabah Liza, Shamsul Alam, Sanjida Ahmed, Mohammad Arbab Sarker, Meher Nigar Nishi, Sharmina Afrin, Mohammad Abdul Quddus

Source: Bangabandhu Sheikh Mujib Medical University Journal, Vol 15, Iss 2 (2023)

Subject Terms: Sphingomyelin, Glucocerebrosidase, Physiology, Lysosomal storage disease, Mononuclear phagocyte system, Pathology and Forensic Medicine, Niemann–Pick disease, Endocrinology, Lysosomal Storage Disorders, Niemann-Pick Disease, Health Sciences, Pathology, Bone marrow, Disease, Acid sphingomyelinase, Internal medicine, Niemann Pick Disease, Sphingomyelinase, Lysosomal Storage Disease, Hematology, Failure to thrive, Glucocerebroside, 3. Good health, Cholesterol, Niemann–Pick disease, type C, FOS: Biological sciences, Medicine, Nephropathic Cystinosis Research, Hemophagocytic Lymphohistiocytosis and Related Disorders, Lymph node, Spleen, Lysosomal Storage Disorders in Human Health and Disease

Access URL: https://doaj.org/article/f41d8ec9026442449857a7f264af5b07

Pitiriasis Palpebral: Tratamiento y Manejo

Authors: Jorge Morales, Alejandro Vilar López, Adán Guillermo Ramírez García, M. José Muñoz- Delgado Mérida, Nancy Jhoselin Sacor Quijivix, María Fernanda Orellana Castillo

Source: Revista Oftálmica, Vol 23 (2022)

Subject Terms: Diagnosis and Management of Fungal Infections, pestaña, Physiology, infestación, parásito, RE1-994, FOS: Health sciences, Treatment, Challenges in Understanding and Treating Leprosy, Ophthalmology, Infectious Diseases, FOS: Biological sciences, Health Sciences, Medicine, Lysosomal Storage Disorders in Human Health and Disease, Palpebral fissure

Access URL: https://doaj.org/article/495579ffdfdb4658bdc4b39bdf5c47a6

Bone manifestations in patients with Gaucher disease type 1 in southwestern Colombia

Authors: Daniela Arturo-Terranova, Lina Johanna Moreno Giraldo, José María Satizábal-Soto

Subject Terms: 2. Zero hunger, Gaucher Disease, Physiology, Epidemiology, Epidemiology and Treatment of Chagas Disease, Life Sciences, Paleontology, Geology, Cell Biology, FOS: Earth and related environmental sciences, Pediatrics, 3. Good health, Mechanisms of Intracellular Membrane Trafficking, FOS: Biological sciences, Biochemistry, Genetics and Molecular Biology, Health Sciences, Pathology, Medicine, Disease, Type (biology), Lysosomal Storage Disorders in Human Health and Disease

Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome

Authors: Eman Mohammed, Alaaeldin Fayez, Nourhan Abdelfattah, Ekram Fateen

Source: Sci Rep
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

Subject Terms: 0301 basic medicine, Pulmonary and Respiratory Medicine, Therapeutic Advances in Cystic Fibrosis Research, Support vector machine, Physiology, Science, Sanfilippo syndrome, Mutation, Missense, Normal Distribution, Receiver operating characteristic, Gene, Microbiology, Article, Machine Learning, Mucopolysaccharidosis III, 03 medical and health sciences, Missense variants, Lysosomal Storage Disorders, Biochemistry, Genetics and Molecular Biology, Health Sciences, Machine learning, Genetics, Humans, Pathogenicity, Missense mutation, Biology, Internal medicine, 0303 health sciences, 4. Education, In silico, Computational Biology, Life Sciences, Machine-learning model, Bayes Theorem, Cell Biology, Computer science, 3. Good health, Matthews correlation coefficient, Phenotype, ROC Curve, Mechanisms of Intracellular Membrane Trafficking, FOS: Biological sciences, Medicine, Pathogenicity prediction, Lysosomal Storage Disorders in Human Health and Disease

Access URL: https://pubmed.ncbi.nlm.nih.gov/38802532
https://doaj.org/article/e102fd916cb0443e9dc6840e3efa0455

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

Authors: Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, S. S. Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev N. Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashish R. Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju Shah, Anand Iyer, Sunita Bijarnia, Ratna Dua Puri, Mamta Muranjan, Ami A. Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval I Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya Joshi, Madhvi Joshi, Jayesh Sheth

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

Subject Terms: Male, 0301 basic medicine, FOS: Computer and information sciences, DNA Copy Number Variations, Physiology, Epidemiology, Bioinformatics, Epidemiology and Treatment of Chagas Disease, India, Exon, Dried blood spot, smMIP probes, QH426-470, Lysosomal storage disorders, Polymorphism, Single Nucleotide, Gene, Diagnostic yield, Computational biology, 03 medical and health sciences, Human genetics, Lysosomal Storage Disorders, Biochemistry, Genetics and Molecular Biology, Health Sciences, Chitin Metabolism in Insects and Mammals, Genetics, Humans, Disease, Genetic Testing, DNA sequencing, Molecular Biology, Biology, Internal medicine, 0303 health sciences, Fabry disease, Research, High-Throughput Nucleotide Sequencing, Life Sciences, 3. Good health, Lysosomal Storage Diseases, Molecular Probes, FOS: Biological sciences, Medicine, Female, Cost effective, Lysosomal Storage Disorders in Human Health and Disease

Access URL: https://pubmed.ncbi.nlm.nih.gov/38730490
https://doaj.org/article/8292fe789fb04f60a6890327d1f87871

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

Authors: Roberto Giugliani, Antonio González‐Meneses, Maurizio Scarpa, Barbara K. Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, B. Chabrol, Christina Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt

Source: Orphanet J Rare Dis
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Orphanet Journal of Rare Diseases, vol 19, iss 1

Subject Terms: Male, Adolescent, Physiology, Lysosomal storage disease, Heparan sulfate, MPS VII, Pediatrics, Adolescent [MeSH], Female [MeSH], Glucuronidase/therapeutic use [MeSH], Mucopolysaccharidosis VII/drug therapy [MeSH], Humans [MeSH], Enzyme Replacement Therapy/methods [MeSH], Longitudinal Studies [MeSH], Non-immune hydrops fetalis, Recombinant Proteins/administration, Recombinant Proteins/adverse effects [MeSH], Recombinant Proteins/therapeutic use [MeSH], Infant [MeSH], Male [MeSH], Research, β-glucuronidase deficiency, Glucuronidase/metabolism [MeSH], Child [MeSH], Mucopolysaccharidosis VII, Child, Preschool [MeSH], Mucopolysaccharidosis type II, SDG 3 - Good Health and Well-being, FOS: Chemical sciences, Biochemistry, Genetics and Molecular Biology, Health Sciences, Humans, Enzyme Replacement Therapy, Disease, Longitudinal Studies, Preschool, Child, Molecular Biology, Internal medicine, Glucuronidase, Dermatan sulfate, Heparin, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, Infant, Life Sciences, Mucopolysaccharidoses, Recombinant Proteins, Mucopolysaccharidosis, 3. Good health, Biochemistry, Pharmacology, and Medical Use of Bromelain, Chemistry, Child, Preschool, FOS: Biological sciences, Enzyme replacement therapy, Physical Sciences, Medicine, Hunter syndrome, Female, Surgery, Lysosomal Storage Disorders in Human Health and Disease

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38715031
https://doaj.org/article/035cbead2c0241dba2d01dd40974329c
https://pure.eur.nl/en/publications/b6c5bb3a-5c83-4617-a729-a31ac28c53ac
https://doi.org/10.1186/s13023-024-03176-z
https://repository.publisso.de/resource/frl:6493200
https://escholarship.org/content/qt8np717v2/qt8np717v2.pdf
https://escholarship.org/uc/item/8np717v2

An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients

Authors: Tanapat Pornsukjantra, Nongluk Saikachain, Nareerat Sutjarit, Arthaporn Khongkrapan, Alisa Tubsuwan, Kanit Bhukhai, Thipwimol Tim‐Aroon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas

Source: Sci Rep
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)

Subject Terms: 0301 basic medicine, Physiology, Apoptosis, Gaucher disease, UPR, Biochemistry, Gene, Unfolded protein response, Neuroinflammation, Disease, Internal medicine, Programmed cell death, Neurons, 0303 health sciences, Cell Death, Life Sciences, Cell Differentiation, Endoplasmic Reticulum Stress, 3. Good health, Mechanisms of Intracellular Membrane Trafficking, Medicine, ER stress, Lysosomal Storage Disorders in Human Health and Disease, Cell biology, Science, Induced Pluripotent Stem Cells, Immunology, LSDs, Article, Cell Line, iPSCs-derived neurons, 03 medical and health sciences, Biochemistry, Genetics and Molecular Biology, Health Sciences, Humans, Neurodegeneration, Biology, Endoplasmic Reticulum Stress and Unfolded Protein Response, Inflammation, Gaucher Disease, Induced pluripotent stem cell, FOS: Clinical medicine, Cell Biology, Embryonic stem cell, FOS: Biological sciences, Unfolded Protein Response, Calcium, Endoplasmic reticulum

Access URL: https://pubmed.ncbi.nlm.nih.gov/38649404
https://doaj.org/article/0f6e96ed824b4ccca62b25c09c125f40

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

Authors: Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

Source: Genet Res (Camb)
Genetics Research, Vol 2022 (2022)

Subject Terms: 0301 basic medicine, Genetic testing, Physiology, Glucose-6-Phosphate, Glycoprotein Synthesis, QH426-470, Glycogen Storage Disease Type I, Gene, Phosphates, Glycogen storage disease type I, 03 medical and health sciences, Endocrinology, Rheumatology, FOS: Chemical sciences, Health Sciences, Genetics, Humans, Glycosylation Mechanisms, Missense mutation, Disease, Internal medicine, Biology, Retrospective Studies, Glycogen storage disease, 0303 health sciences, Lactic acidosis, Chemical Glycobiology and Therapeutic Applications, Organic Chemistry, Malaysia, Gastroenterology, Glycogen Storage Disease, Hypoglycemia, 3. Good health, Chemistry, Glucose, Glycogen Metabolism and Myoclonic Disorders, FOS: Biological sciences, Physical Sciences, Mutation, Glucose-6-Phosphatase, Medicine, Glycogen Storage Diseases, Research Article, Hepatomegaly, Lysosomal Storage Disorders in Human Health and Disease

File Description: text/xhtml

Access URL: https://pubmed.ncbi.nlm.nih.gov/36160031
https://doaj.org/article/22f071b3008a432793afed0b343a722e

Pre- and post-therapeutic evaluation of liver and spleen in type I and type III Gaucher’s disease using diffusion tensor imaging

Authors: Eman Alnaghy, Ahmed Abdel Khalek Abdel Razek, Ebrahim Abdelhalim

Source: Abdom Radiol (NY)

Subject Terms: Physiology, Epidemiology, Epidemiology and Treatment of Chagas Disease, Diffusion MRI, 03 medical and health sciences, Magnetic resonance imaging, 0302 clinical medicine, Biochemistry, Genetics and Molecular Biology, Health Sciences, Pathology, Humans, Prospective Studies, Internal medicine, Gaucher Disease, Gastroenterology, Life Sciences, Cell Biology, 3. Good health, Diffusion Tensor Imaging, Liver, Mechanisms of Intracellular Membrane Trafficking, FOS: Biological sciences, Medicine, Hepatobiliary, Radiology, Liver disease, Spleen, Lysosomal Storage Disorders in Human Health and Disease, Fractional anisotropy

Access URL: https://pubmed.ncbi.nlm.nih.gov/35867132

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Authors: Lígia S. Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schröder, Tomasz Bochinski, Anett Kaune, Alice Urzì, Tania C. L. S. Spohr, Nikenza Viceconte, Sebastian Oppermann, Mohammed Alasel, Saeedeh Ebadat, Sadaf Iftikhar, Eresha Jasinge, Solaf M. Elsayed, Hoda Tomoum, Iman Marzouk, Anil Jalan, Agnė Čerkauskaitė, Rimantė Čerkauskienė, Tinatin Tkemaladze, Anjum Muhammad Nadeem, Iman Gamal El Din Mahmoud, Fawzia Amer Mossad, M. Kamel, Laila Selim, Huma Arshad Cheema, Omid Paknia, Claudia Cozma, Carlos Juaristi-Manrique, Pilar Guatibonza-Moreno, Tobias Böttcher, Florian Vogel, Jorge Pinto‐Basto, Aida M. Bertoli‐Avella, Péter Bauer

Source: Eur J Hum Genet

Subject Terms: Exome sequencing, FOS: Computer and information sciences, 0301 basic medicine, Genetic testing, DNA Copy Number Variations, Physiology, Bioinformatics, Gene, Article, 03 medical and health sciences, Metabolic Diseases, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Health Sciences, Genetics, Humans, Exome, Pakistan, Disease, Molecular Biology, Biology, Internal medicine, 0303 health sciences, Pathogenicity Prediction, Medical genetics, Cohort, High-Throughput Nucleotide Sequencing, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Nucleotide Metabolism and Enzyme Regulation, 3. Good health, Phenotype, FOS: Biological sciences, Genetic diagnosis, Medicine, Lysosomal Storage Disorders in Human Health and Disease

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/35614200
https://hdl.handle.net/20.500.11767/142711
https://doi.org/10.1038/s41431-022-01119-5