المؤلفون: Aladağ N, Ali Barman H, Şipal A, Akbulut T, Özdemir M, Ceylaner S

المصدر: Balkan Journal of Medical Genetics, Vol 26, Iss 1, Pp 43-50 (2023)

مصطلحات موضوعية: unexplained left ventricular hypertrophy, fabry disease, gla mutation, polymorphism, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2199-5761

URL الوصول: https://doaj.org/article/7508e1a9d5564ce18f605b479b1ac0c4

المؤلفون: Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami

المصدر: JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)

مصطلحات موضوعية: chronic renal failure, Fabry disease, GLA mutation, hypertrophic cardiomyopathy, late onset, stroke, 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/1fc4e82c88a64b728007b9797e36a37d

المؤلفون: Sebastian Militaru, Robert Adam, Lucian Dorobantu, Paolo Ferrazzi, Maria Iascone, Viorica Radoi, Gener Ismail, Bogdan A. Popescu, Ruxandra Jurcut

المصدر: Anatolian Journal of Cardiology, Vol 22, Iss 3, Pp 154-158 (2019)

مصطلحات موضوعية: fabry disease, hypertrophic obstructive cardiomyopathy, gla mutation, myectomy, intrafamilial variability, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=anatoljcardiol&un=AJC-47969; https://doaj.org/toc/2149-2263

URL الوصول: https://doaj.org/article/0b783f89eb1043378399e2523e72ccc6

المؤلفون: Capuano, Ivana^Aff1, Garofalo, Carlo, Buonanno, Pasquale, Pinelli, Michele, Di Risi, Teodolinda, Feriozzi, Sandro, Riccio, Eleonora, Pisani, Antonio

المصدر: Journal of Nephrology. 33(3):569-581

المؤلفون: Sumita Danda, Ishwar Chander Verma, Neerja Gupta, Ravinder Makkar, Prajnya Ranganath, Hisham Ahamed, Ashwin Dalal, Meenakshi Bhat, Madhulika Kabra, Uma Ramaswami, Sunita Bijarnia-Mahay, Akella Radha Rama Devi, Amrita Bhattacherjee, Ratna Dua Puri, Shubha R. Phadke, Sheela Nampoothiri, Dhanya Yesodharan, Sujatha Jagadeesh, Kausik Mandal, Padmavathy Narayana Sylaja

المصدر: JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)
JIMD Reports

مصطلحات موضوعية: Research Report, medicine.medical_specialty, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Left ventricular hypertrophy, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), chronic renal failure, Internal medicine, Genotype, Internal Medicine, Medicine, late onset, Stroke, GLA mutation, Fabry disease, lcsh:RC648-665, business.industry, Hypertrophic cardiomyopathy, Research Reports, Enzyme replacement therapy, hypertrophic cardiomyopathy, medicine.disease, stroke, lcsh:Genetics, Neuropathic pain, Cohort, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3061559a80a32447797f36ae406873ed
https://doi.org/10.1002/jmd2.12156

المؤلفون: Matteo Prencipe, G Gabbriellini, Chiara Posarelli, Michele Figus

المصدر: European Journal of Ophthalmology. 31:NP53-NP57

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, small fiber neuropathy, In vivo confocal microscopy, Confocal, Nerve fiber, 03 medical and health sciences, 0302 clinical medicine, In vivo, Gla gene, medicine, cornea verticillata, Cornea verticillata, Fabry disease, business.industry, General Medicine, medicine.disease, G171S GLA mutation, Ophthalmology, 030104 developmental biology, medicine.anatomical_structure, Mutation (genetic algorithm), 030221 ophthalmology & optometry, in vivo confocal microscopy, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ef1877d713cc092330f4688467b6f71
https://doi.org/10.1177/1120672120939496

المؤلفون: Maria Iascone, Sebastian Militaru, Ruxandra Jurcut, Paolo Ferrazzi, Robert Adam, Gener Ismail, Bogdan A. Popescu, Viorica Radoi, Lucian Dorobantu

المصدر: Anatolian Journal of Cardiology
Anatolian Journal of Cardiology, Vol 22, Iss 3, Pp 154-158 (2019)

مصطلحات موضوعية: lcsh:Diseases of the circulatory (Cardiovascular) system, medicine.medical_specialty, intrafamilial variability, Case Report, Disease, Diagnosis, Differential, hypertrophic obstructive cardiomyopathy, medicine, Humans, Genetic Predisposition to Disease, myectomy, Stroke, X chromosome, Proteinuria, business.industry, Hypertrophic cardiomyopathy, Middle Aged, medicine.disease, Fabry disease, Dermatology, Angiokeratoma, Pedigree, lcsh:RC666-701, Echocardiography, gla mutation, Fabry Disease, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a61145a2b49de961e7862883b773c263
http://europepmc.org/articles/PMC6735429

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المؤلفون: Ivana Capuano, Eleonora Riccio, Carlo Garofalo, Sandro Feriozzi, Antonio Pisani, Pasquale Buonanno, Teodolinda Di Risi, Michele Pinelli

المساهمون: Capuano, Ivana, Garofalo, Carlo, Buonanno, Pasquale, Pinelli, Michele, Di Risi, Teodolinda, Feriozzi, Sandro, Riccio, Eleonora, Pisani, Antonio, Capuano, I., Garofalo, C., Buonanno, P., Pinelli, M., Di Risi, T., Feriozzi, S., Riccio, E., Pisani, A.

المصدر: JN. Journal of Nephrology (Milano, 1992) 33 (2020): 569–581. doi:10.1007/s40620-019-00663-6
info:cnr-pdr/source/autori:Ivana Capuano; Carlo Garofalo; Pasquale Buonanno; Michele Pinelli; Teodolinda Di Risi; Sandro Feriozzi; Eleonora Riccio; Antonio Pisani/titolo:Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019/doi:10.1007%2Fs40620-019-00663-6/rivista:JN. Journal of Nephrology (Milano, 1992)/anno:2020/pagina_da:569/pagina_a:581/intervallo_pagine:569–581/volume:33

مصطلحات موضوعية: Nephrology, Male, medicine.medical_specialty, medicine.medical_treatment, Population, 030232 urology & nephrology, Late onset, 030204 cardiovascular system & hematology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Renal Dialysis, Internal medicine, medicine, Prevalence, Humans, education, Uncertain significance, GLA mutation, Dialysis, education.field_of_study, Mutation, business.industry, Dialysi, Genetic disorder, medicine.disease, Fabry disease, alpha-Galactosidase, Screening, Fabry Disease, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86c463b0c4f307e97c9133e01f3ad7aa
https://pubmed.ncbi.nlm.nih.gov/31650418