المؤلفون: Nuria Puente-Ruiz, Ian Ellis, Marsel Bregu, Cliff Chen, Heather J. Church, Karen L. Tylee, Shalini Gladston, Richard Hackett, Andrew Oldham, Surinder Virk, Christian Hendriksz, Andrew A.M. Morris, Simon A. Jones, Karolina M. Stepien

المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101009- (2023)

مصطلحات موضوعية: Fucosidosis, Angiokeratomas, Learning disability, Long-term outcomes, Natural history, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000551; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/e11c82b46a984ceebcbab2acd067099a

المؤلفون: Teodoro Jerves Serrano, Jessica Gold, James A. Cooper, Heather J. Church, Karen L. Tylee, Hoi Yee Wu, Sun Young Kim, Karolina M. Stepien

المصدر: Journal of Clinical Medicine, Vol 13, Iss 5, p 1465 (2024)

مصطلحات موضوعية: lysosomal storage diseases, hepatomegaly, splenomegaly, organomegaly, hepatosplenomegaly, biomarkers, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/13/5/1465; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/b8a40a1af51e45d9821ae56c0ceef124

المؤلفون: Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina

المصدر: International Journal of Neonatal Screening, Vol 9, Iss 1, p 8 (2023)

مصطلحات موضوعية: n/a, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/9/1/8; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/a36723cd58264998bac2ee2078070595

المؤلفون: Maria Xu, Christopher Orsborne, James Eden, Andrew Wallace, Heather J. Church, Karen Tylee, Sasalu Deepak, Christopher Cassidy, Peter Woolfson, Christopher Miller, Matthias Schmitt, Ana Jovanovic, William G. Newman

المصدر: Cardiogenetics, Vol 11, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: mosaic, Fabry disease, somatic mosaicism, cardiomyopathy, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2035-8148/11/1/1; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

URL الوصول: https://doaj.org/article/b285246661f44d98bb529b71a545c8c7

المؤلفون: Kiterie M. E. Faller, Alison E. Ridyard, Rodrigo Gutierrez‐Quintana, Angie Rupp, Celia Kun‐Rodrigues, Tatiana Orme, Karen L. Tylee, Heather J. Church, Rita Guerreiro, Jose Bras

المصدر: Journal of Veterinary Internal Medicine, Vol 34, Iss 5, Pp 1813-1824 (2020)

مصطلحات موضوعية: Hurler, iduronidase, lysosomal storage disease, Scheie, Veterinary medicine, SF600-1100

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0891-6640; https://doaj.org/toc/1939-1676

URL الوصول: https://doaj.org/article/a781ad876b6f449c84adc6e3ce5584c3

المؤلفون: Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan

المصدر: International Journal of Neonatal Screening, Vol 8, Iss 2, p 25 (2022)

مصطلحات موضوعية: newborn screening (NBS), inherited metabolic disease, inherited disorder, public health, paediatrics, rare diseases, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/8/2/25; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/db98af22eefe43c787d56700ed2973ef

المؤلفون: Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina

المصدر: International Journal of Neonatal Screening, Vol 8, Iss 1, p 20 (2022)

مصطلحات موضوعية: newborn screening (NBS), inherited metabolic disorder (IMD), public health, genetics, congenital disorder, lysosomal storage disorder (LSD), Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/8/1/20; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/0c374f26e09b4d3dbe636480edd60bd3

المؤلفون: Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox

المصدر: Human Mutation. 43:2265-2278

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ebf531dddae20bafeb98c6c321455e5
https://doi.org/10.1002/humu.24479

المؤلفون: Ana Jovanovic, Christopher A. Miller, Heather J. Church, Andrew J Wallace, Christopher Orsborne, Sasalu Deepak, Christopher Cassidy, William G. Newman, Karen Tylee, Matthias Schmitt, Peter Woolfson, James Eden, Maria Xu

المصدر: Cardiogenetics, Vol 11, Iss 1, Pp 1-9 (2021)
Newman, W, Orsborne, C, Xu, M, Miller, C, Schmitt, M, Jovanovic, A, Woolfson, P, Eden, J, Church, H J, Tylee, K L, Cassidy, C, Deepak, S & Wallace, A J 2020, ' Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy ', Cardiogenetics, vol. 11 . https://doi.org/10.3390/cardiogenetics11010001

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, lcsh:Diseases of the circulatory (Cardiovascular) system, Cardiomyopathy, Context (language use), 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, medicine, Biochemical testing, Loss function, General Environmental Science, Genetic testing, Fabry disease, medicine.diagnostic_test, business.industry, Hypertrophic cardiomyopathy, medicine.disease, 030104 developmental biology, somatic mosaicism, Somatic mosaicism, lcsh:RC666-701, General Earth and Planetary Sciences, mosaic, business, cardiomyopathy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1070498827447e926999bf0f59c9b7a
https://www.mdpi.com/2035-8148/11/1/1

المؤلفون: Denise Bonney, Alexander Broomfield, Fiona White, Jane Roberts, Jane Louise Kinsella, Arunabha Ghosh, Robert Wynn, Joanne Hughes, Jane E. Potter, Helen Campbell, Christine Merrigan, Pamela Evans, Adam Hodgkinson, Gemma Petts, Simon Jones, Heather J. Church, Stephen M. Hughes, Brian W. Bigger, William G. Newman, Kathryn Brammeier

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Potter, J, Newman, W, Jones, S, Wynn, R, Ghosh, A, Broomfield, A & Bigger, B 2021, ' Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease ', Orphanet Journal of Rare Diseases, vol. 16, no. 1, 235 . https://doi.org/10.1186/s13023-021-01849-7
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Dietary substrate reduction (DSR), Normal diet, Genetic enhancement, medicine.medical_treatment, Lysosomal acid lipase (LAL), Hepatosplenomegaly, Gastroenterology, Gene therapy, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Pharmacology (medical), Genetics (clinical), Wolman disease, Hemophagocytic lymphohistiocytosis, Lysosomal storage disorders (LSD), Hematopoietic stem cell transplant (HCT), business.industry, Research, Hematopoietic Stem Cell Transplantation, Wolman Disease, Infant, nutritional and metabolic diseases, Multimodal therapy, General Medicine, Immunotherapy, Enzyme replacement therapy, Sterol Esterase, medicine.disease, Hemophagocytic lymphohistiocytosis (HLH), Quality of Life, Enzyme replacement therapy (ERT), Medicine, medicine.symptom, Gastrointestinal function, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646bbf105331fe78fffe045b41d6488f
https://doaj.org/article/d3be9f8f7dcb489b904a47d7c2643970