المؤلفون: Madhulika Kabra, Ratna Dua Puri, Ishwar C. Verma, Sheela Nampoothiri, Katta M. Girisha, Neerja Gupta, Ishpreet K. Biji, Priya S. Kishnani, Mamta N. Muranjan, Sujatha Jagadeesh, N Vinu, Jyotsna Verma, Jayarekha Raja, Ravinder Makkar, Divya C. Thomas, Nitika Setia, Meenakshi Bhat

المصدر: Neuromuscular Disorders. 31:431-441

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Genotype, Cardiomyopathy, India, Late onset, Disease, Compound heterozygosity, Left ventricular hypertrophy, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Age of Onset, Child, Genetics (clinical), Retrospective Studies, Glycogen Storage Disease Type II, business.industry, Homozygote, Muscle weakness, medicine.disease, Cross-Sectional Studies, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, RNA Splice Sites, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc6199f44a124c02bf605eb42732602bTest
https://doi.org/10.1016/j.nmd.2021.02.013Test

المؤلفون: Tejashwini Vittal Kumar, Meenakshi Bhat, Sanjeeva Ghanti Narayanachar, Vinu Narayan, Ambika K. Srikanth, Swathi Anikar, Swathi Shetty

المصدر: PLOS ONE. 17:e0270373

مصطلحات موضوعية: Multidisciplinary, Asian People, Mutation, Humans, Glycogen Storage Disease Type I, Glycogen Storage Disease, Glycogen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5775b181b309413a10402c175753f777Test
https://doi.org/10.1371/journal.pone.0270373Test

المؤلفون: S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Meenakshi Bhat, Juby Mathew, Sudha Srinivasan, Sujatha Jagadeesh

المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Arylsulfatase B, ARSB, arylsulfatase B, Population, India, LSD, lysosomal storage disorder, GAG, glycosaminoglycan, Lysosomal storage disorder (LSD), Biology, MPS, mucopolysaccharidosis, medicine.disease_cause, HSCT, hematopoietic stem cell transplantation, Endocrinology, VUS, variants of unknown significance, Genetics, medicine, MPS - Mucopolysaccharidosis, education, Arylsulfatase B (ARSB), lcsh:QH301-705.5, Molecular Biology, Gene, GALNS, N-acetyl galactosamine 6-sulfatase, lcsh:R5-920, education.field_of_study, Mutation, Maroteaux–Lamy syndrome, Active site, Mucopolysaccharidosis VI, medicine.disease, Lysosomal enzyme, ERT, enzyme replacement therapy, lcsh:Biology (General), Inborn error of metabolism (IEM), Inborn error of metabolism, PCT, pharmacological chaperone therapy, HGMD, Human Gene Mutation Database, lcsh:Medicine (General), Mutations, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7118e015b695c28fc964a97d7300e6Test
https://doi.org/10.1016/j.ymgmr.2015.06.002Test

المؤلفون: Sankar V. Hariharan, Kalpana Gowrishankar, M. L. Kulkarni, Anju Shukla, Kavitha Mohanasundaram, Ashwin Dalal, Meenakshi Bhat, Sumita Danda, Anju Gupta, A. Radha Ramadevi, Shubha R. Phadke, Shagun Aggarwal, Katta M. Girisha, Prajnya Ranganath, Akhil Muralidhar Kulkarni, Gandham SriLakshmi Bhavani, Hitesh Shah, Neerja Gupta, Sunita Bijarnia-Mahay, Madhulika Kabra, Sankaralingam Rajeswari, Ratna Dua Puri, Sheela Nampoothiri

المصدر: American Journal of Medical Genetics Part A. 167:2481-2484

مصطلحات موضوعية: Adult, Cartilage, Articular, Male, Heterozygote, Adolescent, Gene Expression, India, Biology, CCN Intercellular Signaling Proteins, Text mining, Genetics, Humans, Atypical phenotype, Family, Genetics (clinical), business.industry, Homozygote, Exons, Introns, Phenotype, Amino Acid Substitution, Mutation, Female, Joint Diseases, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd88dbcc0bd3993164135243f7a5c78aTest
https://doi.org/10.1002/ajmg.a.37164Test

المؤلفون: Neerja Gupta, Phillipe Schröter, Bernd Wollnik, Madhulika Kabra, Lionel Van Maldergem, Eva Morava, Yun Li, Jaime Moritz Brum, Katherine Lachlan, Diana Johnson, Shubha R. Phadke, David Chitayat, Thatjana Gardeitchik, Zeina Mahayri, Leo G.J. Nijtmans, Marco Castori, Stefan Mundlos, Elaine Fletcher, Ingeborg Barišić, Aikaterini Dimopoulou, Katta M. Girisha, Martina Simandlova, Albert David, Christiane Spaich, Hülya Kayserili, Meenakshi Bhat, Francesco Brancati, Beyhan Tüysüz, Björn Fischer, Claire Schlack, Uwe Kornak

المصدر: Molecular Genetics and Metabolism, 110, 352-61
Molecular Genetics and Metabolism, 110, 3, pp. 352-61

مصطلحات موضوعية: Models, Molecular, Pathology, medicine.medical_specialty, Genotype, Protein Conformation, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Biology, Biochemistry, Gerodermia osteodysplastica, Cutis Laxa, Endocrinology, Gene Order, Genetics, medicine, Humans, Missense mutation, AR cutis laxa, Autosomal recessive cutis laxa, PYCR1, proline, mitochondria, segmental progeroid disorders, Molecular Biology, Alleles, Genetic Association Studies, Progeria, Psychomotor retardation, Facies, Exons, Glycostation disorders [IGMD 4], medicine.disease, Phenotype, Mutation, De Barsy syndrome, Pyrroline Carboxylate Reductases, medicine.symptom, Wrinkly skin syndrome, Cutis laxa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4a9290161bb3a43a749084a8fa979eTest
https://doi.org/10.1016/j.ymgme.2013.08.009Test

المؤلفون: Ishwar C. Verma, Preetha Tilak, Prajnya Ranganath, Jamal Mohammed Nurul Jain, Shagun Aggarwal, Savita Wangnekar, Shubha R. Phadke, Akella Radha Ramadevi, Siddaramappa J. Patil, Meenakshi Bhat, Katta M. Girisha, Ratna Dua Puri, Ashwin Dalal, Divya Matta, Neerja Gupta, Kalpana Gowrishankar, Gandham SriLakshmi Bhavani, Kausik Mandal, V.H. Sankar, Sumita Danda, Madhulika Kabra, Parag M Tamhankar

المصدر: American journal of medical genetics. Part A. 170(10)

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Adolescent, Genotype, Protein Conformation, Nonsense mutation, DNA Mutational Analysis, India, Biology, Polymorphism, Single Nucleotide, Frameshift mutation, 03 medical and health sciences, Consanguinity, Prenatal Diagnosis, Genetics, Missense mutation, Humans, Indel, Child, Genetics (clinical), Alleles, Niemann-Pick Diseases, Haplotype, Infant, Newborn, Computational Biology, Facies, Infant, Exons, Enzyme Activation, 030104 developmental biology, Phenotype, Sphingomyelin Phosphodiesterase, Amino Acid Substitution, Haplotypes, Child, Preschool, Mutation (genetic algorithm), Mutation, Splenomegaly, Mutation testing, Biomarkers, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ee08aaf144090d84a9ab00441668679Test
https://pubmed.ncbi.nlm.nih.gov/27338287Test

المؤلفون: Massimo Tatti, Marie T. Vanier, Laura Masuelli, Anna Maria Vaccaro, Rosa Salvioli, Anna Tylki-Szymańska, Meenakshi Bhat, Marialetizia Motta, Susanna Scarpa

مصطلحات موضوعية: Male, Ceramide, Molecular Sequence Data, Intracellular Space, Biology, Ceramides, Saposins, chemistry.chemical_compound, Lysosome, Autophagy, Genetics, medicine, Humans, Amino Acid Sequence, Protein Precursors, Molecular Biology, Genetics (clinical), chemistry.chemical_classification, Prosaposin, Gaucher Disease, Activator (genetics), Lipid metabolism, General Medicine, Fibroblasts, Lipid Metabolism, Glucosylceramidase, Protein Transport, Cholesterol, medicine.anatomical_structure, chemistry, Biochemistry, Mutation, Female, Lysosomes, Glycoprotein, Microtubule-Associated Proteins, Protein Processing, Post-Translational, Cysteine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5086e05316eaec3b849e065820c75b80Test
http://hdl.handle.net/11573/230753Test