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International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.482-482, Article 482

2021

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Social cognition in pediatric-onset multiple sclerosis (MS)

Multiple sclerosis, 2014-10, Vol.20 (11), p.1478-1484

2014

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Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency

JIMD Reports, Volume 36, 2017, Vol.36, p.117-120

2017

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Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Lancet neurology, 2007-09, Vol.6 (9), p.765-772

2007

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Wild-Type KRAS Is Required for Panitumumab Efficacy in Patients With Metastatic Colorectal Cancer

Journal of clinical oncology, 2008-04, Vol.26 (10), p.1626-1634

2008

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Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody

JAMA neurology, 2019-03, Vol.76 (3), p.301

2019

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Results of Arthroscopic Labral Reconstruction of the Hip in Elite Athletes

The American journal of sports medicine, 2013-10, Vol.41 (10), p.2296-2301

2013

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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.51-51, Article 51

2022

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Outerbridge Grade IV Cartilage Lesions in the Hip Identified at Arthroscopy

Arthroscopy, 2016-05, Vol.32 (5), p.814-819

2016

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Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.493-493, Article 493

2021

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Association of the Quick Sequential (Sepsis-Related) Organ Failure Assessment (qSOFA) Score With Excess Hospital Mortality in Adults With Suspected Infection in Low- and Middle-Income Countries

JAMA : the journal of the American Medical Association, 2018-06, Vol.319 (21), p.2202

2018

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Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions

Genetics in medicine, 2024-02, Vol.26 (2), p.101027, Article 101027

2024

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Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-01, Vol.153B (1), p.132-140

2010

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Cardiometabolic characteristics of people with metabolically healthy and unhealthy obesity

Cell metabolism, 2024-04, Vol.36 (4), p.745-761.e5

2024

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Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

Molecular genetics and metabolism, 2010-04, Vol.99 (4), p.351-357

2010

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Exploratory efficacy endpoints in the Community-Acquired Pneumonia Immunization Trial in Adults (CAPiTA)

Vaccine, 2017-03, Vol.35 (9), p.1266-1272

2017

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Pompe disease diagnosis and management guideline

Genetics in medicine, 2006-05, Vol.8 (5), p.267-288

2006

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Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Human molecular genetics, 2013-11, Vol.22 (21), p.4349-4356

2013

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Analysis of KRAS/NRAS Mutations in a Phase III Study of Panitumumab with FOLFIRI Compared with FOLFIRI Alone as Second-line Treatment for Metastatic Colorectal Cancer

Clinical cancer research, 2015-12, Vol.21 (24), p.5469-5479

2015

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Diagnosis of Pulmonary Embolism with d-Dimer Adjusted to Clinical Probability

The New England journal of medicine, 2019-11, Vol.381 (22), p.2125-2134

2019

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Impact of unresolved neutropenia in patients with neutropenia and invasive aspergillosis: a post hoc analysis of the SECURE trial

Journal of antimicrobial chemotherapy, 2018-03, Vol.73 (3), p.757-763

2018

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Long-term persistence of disability following severe lower-limb trauma. Results of a seven-year follow-up

Journal of bone and joint surgery. American volume, 2005-08, Vol.87 (8), p.1801

2005

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The Impact of the 13-Valent Pneumococcal Conjugate Vaccine on Pneumococcal Carriage in the Community Acquired Pneumonia Immunization Trial in Adults (CAPiTA) Study

Clinical infectious diseases, 2018-06, Vol.67 (1), p.42-49

2018

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Defining Optimal Triage Strategies for hrHPV Screen-Positive Women-An Evaluation of HPV 16/18 Genotyping, Cytology, and p16/Ki-67 Cytoimmunochemistry

Cancer epidemiology, biomarkers & prevention, 2017-11, Vol.26 (11), p.1629-1635

2017

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International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study

Social cognition in pediatric-onset multiple sclerosis (MS)

Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Wild-Type KRAS Is Required for Panitumumab Efficacy in Patients With Metastatic Colorectal Cancer

IL4I1 Is a Metabolic Immune Checkpoint that Activates the AHR and Promotes Tumor Progression

Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody

Results of Arthroscopic Labral Reconstruction of the Hip in Elite Athletes

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Outerbridge Grade IV Cartilage Lesions in the Hip Identified at Arthroscopy

Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

Association of the Quick Sequential (Sepsis-Related) Organ Failure Assessment (qSOFA) Score With Excess Hospital Mortality in Adults With Suspected Infection in Low- and Middle-Income Countries

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

Cardiometabolic characteristics of people with metabolically healthy and unhealthy obesity

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

Exploratory efficacy endpoints in the Community-Acquired Pneumonia Immunization Trial in Adults (CAPiTA)

Pompe disease diagnosis and management guideline

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Analysis of KRAS/NRAS Mutations in a Phase III Study of Panitumumab with FOLFIRI Compared with FOLFIRI Alone as Second-line Treatment for Metastatic Colorectal Cancer

Diagnosis of Pulmonary Embolism with d-Dimer Adjusted to Clinical Probability

Impact of unresolved neutropenia in patients with neutropenia and invasive aspergillosis: a post hoc analysis of the SECURE trial

Long-term persistence of disability following severe lower-limb trauma. Results of a seven-year follow-up

The Impact of the 13-Valent Pneumococcal Conjugate Vaccine on Pneumococcal Carriage in the Community Acquired Pneumonia Immunization Trial in Adults (CAPiTA) Study

Defining Optimal Triage Strategies for hrHPV Screen-Positive Women-An Evaluation of HPV 16/18 Genotyping, Cytology, and p16/Ki-67 Cytoimmunochemistry

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