Acid sphingomyelinase deficiency in France: a retrospective survival study

Authors: Wladimir Mauhin, Nathalie Guffon, Marie T. Vanier, Roseline Froissart, Aline Cano, Claire Douillard, Christian Lavigne, Bénédicte Héron, Nadia Belmatoug, Yurdagül Uzunhan, Didier Lacombe, Thierry Levade, Aymeric Duvivier, Ruth Pulikottil-Jacob, Fernando Laredo, Samia Pichard, Olivier Lidove, ASSUR Study Group

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

Subject Terms: Acid sphingomyelinase deficiency (ASMD), Niemann–Pick disease, Mortality, Survival, Niemann–Pick disease type B, Standardised mortality ratio, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/ab41a96d0cef4ab491a951b59def6bd6

A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany

Authors: Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

Subject Terms: Acid sphingomyelinase deficiency, Morbidity, Mortality, Overall survival, Standardised mortality ratio, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/fcc6da70d48a42ef99aa9804b681ca4a

Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study

Authors: Ruth Pulikottil-Jacob, Sumudu Dehipawala, Brittany Smith, Amod Athavale, Gaelle Gusto, Aastha Chandak, Artak Khachatryan, Tamar Banon, Marie Fournier, Sophie Guillonneau, Laurence Pollissard, Maria Veronica Munoz-Rojas

Source: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101040- (2024)

Subject Terms: Acid sphingomyelinase deficiency, Survival analyses, Mortality, Niemann–Pick disease, Chronic, Chart review, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000861; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/53ce781a41b14fbcb1f7994634f90af1

Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data

Authors: Andrew Doerr, Maliha Farooq, Chad Faulkner, Rebecca Gould, Krista Perry, Ruth Pulikottil-Jacob, Pamela Rajasekhar

Source: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101052- (2024)

Subject Terms: Acid sphingomyelinase deficiency, ASMD, Niemann–Pick, Diagnosis, Clinical presentation, Diagnostic delay, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000053; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/3e62dc89d32a45dba8197f4efb22976e

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Authors: Robin Pokrzywinski, Asha Hareendran, Luba Nalysnyk, Sandy Cowie, Joslyn Crowe, Justin Hopkin, Dhaivat Joshi, Ruth Pulikottil-Jacob

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/77977a39f6cc484ea27403ee4ac28ed5

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

Authors: Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer, Alaa Hamed

Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)

Subject Terms: Late-onset GM2 gangliosidosis, Tay-Sachs disease, Sandhoff disease, Qualitative interviews, Disease manifestations, Burden of disease, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01354-3; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/503b96c9ebf2418784da0cbb633c808e

Job retention vocational rehabilitation for employed people with inflammatory arthritis (WORK-IA): a feasibility randomized controlled trial

Authors: Alison Hammond, Rachel O’Brien, Sarah Woodbridge, Lucy Bradshaw, Yeliz Prior, Kate Radford, June Culley, Diane Whitham, Ruth Pulikottil-Jacob

Source: BMC Musculoskeletal Disorders, Vol 18, Iss 1, Pp 1-15 (2017)

Subject Terms: Feasibility trial, Randomized controlled trial, Arthritis, Inflammatory arthritis, Rheumatoid arthritis, Vocational rehabilitation, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12891-017-1671-5; https://doaj.org/toc/1471-2474

Access URL: https://doaj.org/article/aa26809af6fd428989b94316362ccca9

Comparing the cost-effectiveness and clinical effectiveness of a new community in-reach rehabilitation service with the cost-effectiveness and clinical effectiveness of an established hospital-based rehabilitation service for older people: a pragmatic randomised controlled trial with microcost and qualitative analysis – the Community In-reach Rehabilitation And Care Transition (CIRACT) study

Authors: Opinder Sahota, Ruth Pulikottil-Jacob, Fiona Marshall, Alan Montgomery, Wei Tan, Tracey Sach, Pip Logan, Denise Kendrick, Alison Watson, Maria Walker, Justin Waring

Source: Health Services and Delivery Research, Vol 4, Iss 7 (2016)

Subject Terms: care transition, transition coach, community rehabilitation, in-reach, physiotherapy, microcosting, Public aspects of medicine, RA1-1270, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2050-4349; https://doaj.org/toc/2050-4357

Access URL: https://doaj.org/article/fb407211f8b647ebbafabc299350c9f9

Has Metal-On-Metal Resurfacing Been a Cost-Effective Intervention for Health Care Providers?-A Registry Based Study.

Authors: Ruth Pulikottil-Jacob, Martin Connock, Ngianga-Bakwin Kandala, Hema Mistry, Amy Grove, Karoline Freeman, Matthew Costa, Paul Sutcliffe, Aileen Clarke

Source: PLoS ONE, Vol 11, Iss 11, p e0165021 (2016)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5089767?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/ad1dbc84847d433b96c5dc7e8927d56f

Total hip replacement and surface replacement for the treatment of pain and disability resulting from end-stage arthritis of the hip (review of technology appraisal guidance 2 and 44): systematic review and economic evaluation

Authors: Aileen Clarke, Ruth Pulikottil-Jacob, Amy Grove, Karoline Freeman, Hema Mistry, Alexander Tsertsvadze, Martin Connock, Rachel Court, Ngianga-Bakwin Kandala, Matthew Costa, Gaurav Suri, David Metcalfe, Michael Crowther, Sarah Morrow, Samantha Johnson, Paul Sutcliffe

Source: Health Technology Assessment, Vol 19, Iss 10 (2015)

Subject Terms: systematic review, total hip replacement, resurfacing arthroplasty, osteoarthritis, hip, pain, disability, economic evaluation, Medical technology, R855-855.5

File Description: electronic resource

Relation: https://doaj.org/toc/1366-5278; https://doaj.org/toc/2046-4924

Access URL: https://doaj.org/article/55b93c5f2e3f45498b1c2559da4c42cc

Job retention vocational rehabilitation for employed people with inflammatory arthritis (WORK-IA): a feasibility randomized controlled trial.

Authors: Hammond, Alison, O'Brien, Rachel, Woodbridge, Sarah, Bradshaw, Lucy, Prior, Yeliz, Radford, Kate, Culley, June, Whitham, Diane, Pulikottil-Jacob, Ruth, Ruth Pulikottil-Jacob

Source: BMC Musculoskeletal Disorders; 7/21/2017, Vol. 18, p1-15, 15p, 1 Diagram, 5 Charts

Subject Terms: ARTHRITIS patients, EMPLOYEE retention, VOCATIONAL rehabilitation, JOB absenteeism, RANDOMIZED controlled trials, ARTHRITIS diagnosis, ARTHRITIS, COMPARATIVE studies, EMPLOYMENT, LONGITUDINAL method, RESEARCH methodology, MEDICAL cooperation, QUESTIONNAIRES, RESEARCH, RESEARCH funding, SURVEYS, PILOT projects, EVALUATION research, ARTHRITIS patient rehabilitation

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