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Screening and evaluation tools of dysphagia in adults with neuromuscular diseases: a systematic review

Therapeutic Advances in Chronic Disease, 2019, Vol.10, p.2040622318821622-2040622318821622

2019

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One year effect of tezacaftor and ivacaftor on functional exercise capacity and muscle strength in people with cystic fibrosis

Heliyon, 2024-03, Vol.10 (5), p.e26729-e26729, Article e26729

2024

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Esophageal Trachea, a Unique Foregut Malformation Requiring Multistage Surgical Reconstruction: Case Report

Frontiers in pediatrics, 2020-11, Vol.8, p.605143

2020

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Screening and evaluation tools of dysphagia in children with neuromuscular diseases: a systematic review

Developmental medicine and child neurology, 2017-06, Vol.59 (6), p.591-596

2017

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Screening for sleep‐disordered breathing with Pediatric Sleep Questionnaire in children with underlying conditions

Journal of sleep research, 2019-10, Vol.28 (5), p.e12826-n/a

2019

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Screening for oropharyngeal dysphagia in adult patients with neuromuscular diseases using the Sydney Swallow Questionnaire

Muscle & nerve, 2021-09, Vol.64 (3), p.277-284

2021

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Epstein-Barr Virus-associated Pulmonary Tumor: A Pediatric Case and Discussion of the Literature

Journal of pediatric hematology/oncology, 2021-10, Vol.43 (7), p.e957

2021

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Distinct neurological disorders with ATP1A3 mutations

Lancet neurology, 2014-05, Vol.13 (5), p.503-514

2014

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Correlation Between Cardiopulmonary Exercise Test, Spirometry, and Congenital Heart Disease Severity in Pediatric Population

Pediatric cardiology, 2019-04, Vol.40 (4), p.871-877

2019

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An observational study of the lung clearance index throughout childhood in cystic fibrosis: early years matter

The European respiratory journal, 2020-10, Vol.56 (4), p.2000006

2020

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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.123-123, Article 123

2015

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The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders

Developmental medicine and child neurology, 2014-08, Vol.56 (8), p.724-731

2014

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Regulated granule trafficking in platelets and neurons: A common molecular machinery

European journal of paediatric neurology, 2013-03, Vol.17 (2), p.117-125

2013

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Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

Genetics in medicine, 2013-01, Vol.15 (1), p.55-63

2013

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Another Cause of Hyperglyceroluria

Journal of pediatric gastroenterology and nutrition, 2013-09, Vol.57 (3), p.e19-e19

2013

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Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood

Journal of proteomics, 2013-06, Vol.86, p.53-69

2013

Volltextzugriff (PDF)

Another Cause of Hyperglyceroluria: Aquaporin 7 Gene Mutation

Journal of pediatric gastroenterology and nutrition, 2013-09, Vol.57 (3), p.e19-e19

2013

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Drug resistance in HIV-infected children living in rural South Africa: Implications of an antiretroviral therapy initiated during the first year of life

Journal of clinical virology, 2020-08, Vol.129, p.104547-104547, Article 104547

2020

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Effectiveness of the South African expanded program of immunization against hepatitis B in children infected with human immunodeficiency virus‐1 living in a resource‐limited setting of Kwazulu‐Natal

Journal of medical virology, 2017-01, Vol.89 (1), p.182-185

2017

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The changing epidemiology of hepatitis C virus (HCV) infection in haemodialysis: European multicentre study

Nephrology, dialysis, transplantation, 2004-04, Vol.19 (4), p.904-909

2004

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Screening and evaluation tools of dysphagia in adults with neuromuscular diseases: a systematic review

One year effect of tezacaftor and ivacaftor on functional exercise capacity and muscle strength in people with cystic fibrosis

Esophageal Trachea, a Unique Foregut Malformation Requiring Multistage Surgical Reconstruction: Case Report

Screening and evaluation tools of dysphagia in children with neuromuscular diseases: a systematic review

Screening for sleep‐disordered breathing with Pediatric Sleep Questionnaire in children with underlying conditions

Screening for oropharyngeal dysphagia in adult patients with neuromuscular diseases using the Sydney Swallow Questionnaire

Epstein-Barr Virus-associated Pulmonary Tumor: A Pediatric Case and Discussion of the Literature

Distinct neurological disorders with ATP1A3 mutations

Correlation Between Cardiopulmonary Exercise Test, Spirometry, and Congenital Heart Disease Severity in Pediatric Population

An observational study of the lung clearance index throughout childhood in cystic fibrosis: early years matter

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders

Regulated granule trafficking in platelets and neurons: A common molecular machinery

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

Another Cause of Hyperglyceroluria

Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood

Another Cause of Hyperglyceroluria: Aquaporin 7 Gene Mutation

Drug resistance in HIV-infected children living in rural South Africa: Implications of an antiretroviral therapy initiated during the first year of life

Effectiveness of the South African expanded program of immunization against hepatitis B in children infected with human immunodeficiency virus‐1 living in a resource‐limited setting of Kwazulu‐Natal

The changing epidemiology of hepatitis C virus (HCV) infection in haemodialysis: European multicentre study

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