المؤلفون: Kimberly Gall, Emanuela Izzo, Eija H Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo

المصدر: PLoS ONE, Vol 16, Iss 9, p e0255933 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/0f7f4798607340f6af812a41cc79a33b

المؤلفون: Moeenaldeen Al-Sayed, Yin-Hsiu Chien, Francesca D’Avanzo, Rodolfo Tonin, Hsiang-Yu Lin, Akashdeep Singh, Emanuela Izzo, Ana Carolina Brusius-Facchin, Alessandra Zanetti, Laura Pollard, David C Kasper, Roberto Giugliani, Shuan-Pei Lin, Rosella Tomanin, Tim Wood, Amelia Morrone

المصدر: Human Mutation. 42:1384-1398

مصطلحات موضوعية: Genetics, Newborn screening, Genetic counseling, Mucopolysaccharidosis, Mucopolysaccharidosis IV, Biology, Compound heterozygosity, medicine.disease, Chondroitinsulfatases, Frameshift mutation, Mutation, medicine, Humans, Missense mutation, Allele, Gene, Genetic Association Studies, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb41b8131b26c8b3f9f3a3fa629b7906
https://doi.org/10.1002/humu.24270

المؤلفون: Fernanda Leal‐Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Tiffany Yar Pang, Jessica Cohen‐Pfeffer, Emanuela Izzo, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya

المصدر: Epilepsia. 63(7)

مصطلحات موضوعية: Epilepsy, Neurology, Tripeptidyl-Peptidase 1, Neuronal Ceroid-Lipofuscinoses, Seizures, Humans, Neurology (clinical), Genetic Testing, Serine Proteases, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Aminopeptidases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e697aaaa1b4c36c6c6d2c3a3b294b15
https://pubmed.ncbi.nlm.nih.gov/35474188

المؤلفون: Gretchen MacCarrick, William Mackenzie, Cathleen Raggio, Klane White, Deborah Krakow, Emanuela Izzo, Vikram Pansare, Abigail Hunt, Renée Shediac, Dorna Chu, Tiffany Yar Pang, Sarah Poll, Heather McLaughlin, Guillermo Seratti

المصدر: Genetics in Medicine. 24:S257

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b59c176ae033ddd15d548f5e16c2afac
https://doi.org/10.1016/j.gim.2022.01.444

المؤلفون: Lotta L. E. Koskinen, Emanuela Izzo, Eija H. Seppälä, Tero-Pekka Alastalo, Kirsi Alakurtti, Kimberly Gall, Akashdeep Singh, Juha Koskenvuo

المصدر: Molecular Genetics and Metabolism. 132:S100-S101

مصطلحات موضوعية: Middle East, medicine.diagnostic_test, business.industry, Endocrinology, Diabetes and Metabolism, Yield (finance), Biochemistry, Seizure onset, Endocrinology, Genetics, medicine, business, Molecular Biology, Demography, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::942b0a06881bbb807c69f722f595074d
https://doi.org/10.1016/j.ymgme.2020.12.244

المؤلفون: Emanuela Izzo, Samuel Myllykangas, Inka Saarinen, Kimberly Gall, Kirsi Alakurtti, Lotta L. E. Koskinen, Tero-Pekka Alastalo, Eija H. Seppälä, Akashdeep Singh, Juha Koskenvuo

المصدر: PLoS ONE, Vol 16, Iss 9, p e0255933 (2021)
PLoS ONE

مصطلحات موضوعية: Male, Pediatrics, Social Sciences, Disease, Diagnostic Radiology, Motor Neuron Diseases, Cohort Studies, Epilepsy, Child Development, Medical Conditions, Medicine and Health Sciences, Psychology, Age of Onset, Medical diagnosis, Language, Movement Disorders, Multidisciplinary, Tripeptidyl-Peptidase 1, medicine.diagnostic_test, Radiology and Imaging, High-Throughput Nucleotide Sequencing, Neurodegenerative Diseases, Magnetic Resonance Imaging, Neuronal Ceroid Lipofuscinosis Type 2, Neurology, Child, Preschool, Speech delay, Cohort, Medicine, Medical genetics, Female, medicine.symptom, Research Article, medicine.medical_specialty, DNA Copy Number Variations, Imaging Techniques, Science, Research and Analysis Methods, Diagnostic Medicine, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Humans, Genetic Testing, Genetic testing, business.industry, Cognitive Psychology, Biology and Life Sciences, Infant, Human Genetics, medicine.disease, Cognitive Science, Ataxia, business, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0ad1cd9d05b936295d4d72e086cf551
https://doi.org/10.1371/journal.pone.0255933

المؤلفون: Jessica Cohen-Pfeffer, John Millichap, Ana Morales, Fernanda Leal-Pardinas, Swaroop Aradhya, Elaine C. Wirrell, Britt Johnson, Sara L. Bristow, Emanuela Izzo, Sookyong Koh, Raman Sankar, Rebecca Truty, Tiffany Pang, Dianalee McKnight

المصدر: Molecular Genetics and Metabolism. 132:S204

مصطلحات موضوعية: Pediatric epilepsy, Pediatrics, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Gene panel, Genetics, Medicine, Disease, business, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::03c0c0dde2da733e0f836b59bd8ebaed
https://doi.org/10.1016/s1096-7192(21)00401-7

المؤلفون: Tiffany Pang, Fernanda Leal-Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Emanuela Izzo, Jessica Cohen-Pfeffer, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya

المصدر: Molecular Genetics and Metabolism. 132:S82

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f46aef627011a9351d0d80f535d17c74
https://doi.org/10.1016/j.ymgme.2020.12.194

المؤلفون: Swaroop Aradhya, Rebecca Truty, Emanuela Izzo, Vikram Pansare, Guillermo Seratti, Cathleen L. Raggio, Klane K. White, Tiffany Pang, Britt Johnson, William G. Mackenzie

المصدر: Molecular Genetics and Metabolism. 132:S98

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Biochemistry, Endocrinology, Dysplasia, Internal medicine, Gene panel, medicine, Genetics, business, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33803cb899a732a3291bb3f0e70a0869
https://doi.org/10.1016/j.ymgme.2020.12.238

المؤلفون: Jonathan D. Cooper, Roberto Giugliani, Michael Fietz, Winnie Xin, Helena Poupetova, Sara E. Mole, Emanuela Izzo, Nicola Specchio, David A. Pearce, Helena Jahnová, Angela Schulz, Nicole Miller, Derek Burke, Jessica L. Cohen-Pfeffer, Inés Noher de Halac, Moeenaldeen Al-Sayed, Zoltan Lukacs, Lenka Dvořáková

المصدر: Fietz, M, AlSayed, M, Burke, D, Cohen-Pfeffer, J, Cooper, J D, Dvořáková, L, Giugliani, R, Izzo, E, Jahnová, H, Lukacs, Z, Mole, S E, de Halac, I N, Pearce, D A, Poupetova, H, Schulz, A, Specchio, N, Xin, W & Miller, N 2016, ' Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis ', MOLECULAR GENETICS AND METABOLISM . https://doi.org/10.1016/j.ymgme.2016.07.011

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Lysosomal storage disorder, Endocrinology, Diabetes and Metabolism, Genetic cause of epilepsy, Disease, Bioinformatics, Aminopeptidases, Biochemistry, Epilepsy, 0302 clinical medicine, Endocrinology, Leukocytes, Medicine, Tripeptidyl-Peptidase 1, Brain, Enzyme replacement therapy, Neuronal ceroid lipofuscinosis, Neuronal Ceroid Lipofuscinosis Type 2, Phenotype, Child, Preschool, Female, medicine.symptom, medicine.medical_specialty, Ataxia, Expert recommendations, 03 medical and health sciences, Neuronal Ceroid-Lipofuscinoses, Genetics, Humans, Dementia, Enzyme Replacement Therapy, Language Development Disorders, Neurodegeneration, Allele, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Molecular Biology, business.industry, medicine.disease, Early Diagnosis, 030104 developmental biology, Laboratory diagnosis, Mutation, Dried Blood Spot Testing, Serine Proteases, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b5ec0f16a14953201b7d72f5f7d8ea
https://doi.org/10.1016/j.ymgme.2016.07.011