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Pulmonary outcome measures in long‐term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 3, p. 674, doi. 10.1002/ppul.24621
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- Article
Idiopathic Hyperammonemia following an Unrelated Cord Blood Transplant for Mucopolysaccharidosis I.
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- Pediatric & Developmental Pathology, 2003, v. 6, n. 1, p. 78, doi. 10.1007/s10024-001-0271-3
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- Publication type:
- Article
Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity.
- Published in:
- Journal of Patient-Reported Outcomes, 2020, v. 4, n. 1, p. N.PAG, doi. 10.1186/s41687-020-00245-2
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- Publication type:
- Article
Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.
- Published in:
- Journal of Gastroenterology, 2014, v. 49, n. 8, p. 1274, doi. 10.1007/s00535-013-0890-2
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- Publication type:
- Article
Down Syndrome Disintegrative Disorder.
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- Journal of Child Neurology, 2015, v. 30, n. 9, p. 1147, doi. 10.1177/0883073814554654
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- Publication type:
- Article
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
- Published in:
- 2016
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- Publication type:
- journal article
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-90
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- Publication type:
- Article
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
- Published in:
- 2013
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- Publication type:
- journal article
Further understanding the connection between Alzheimer's disease and Down syndrome.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 7, p. 1065, doi. 10.1002/alz.12112
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- Article
P2‐030: THE LIFE‐DSR STUDY.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P582, doi. 10.1016/j.jalz.2019.06.1252
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- Publication type:
- Article
Glucosylsphingosine (Lyso-Gb 1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14938, doi. 10.3390/ijms232314938
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- Publication type:
- Article
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.
- Published in:
- Indian Pediatrics, 2018, v. 55, n. 2, p. 143, doi. 10.1007/s13312-018-1249-9
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- Publication type:
- Article
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02059-4
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- Publication type:
- Article
Pregnancy Outcomes in Late Onset Pompe Disease.
- Published in:
- Life (2075-1729), 2020, v. 10, n. 9, p. 194, doi. 10.3390/life10090194
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- Publication type:
- Article
Anaesthetic Management of a Patient with Myasthenia Gravis Posted for Tonsillectomy- A Case Report.
- Published in:
- Journal of Clinical & Diagnostic Research, 2021, v. 15, n. 6, p. 1, doi. 10.7860/JCDR/2021/47603.15037
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- Publication type:
- Article
Popliteal Nerve Block as an Alternative to Spinal Anaesthesia for Ankle Surgery in Comorbid Patient-A Case Report.
- Published in:
- Journal of Clinical & Diagnostic Research, 2021, v. 15, n. 4, p. 1, doi. 10.7860/JCDR/2021/47579.14704
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- Publication type:
- Article
Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 4, p. 1, doi. 10.1002/ajmg.c.32070
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- Publication type:
- Article
Are we prepared to deliver gene‐targeted therapies for rare diseases?
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 1, p. 7, doi. 10.1002/ajmg.c.32029
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- Publication type:
- Article
Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy.
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- Journal of Pediatric Ophthalmology & Strabismus, 2014, v. 51, n. 6, p. 355, doi. 10.3928/01913913-20140813-01
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- Publication type:
- Article
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63781
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- Article
An exploratory study of plasma ceramides in comorbidities in Down syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2300, doi. 10.1002/ajmg.a.63325
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- Publication type:
- Article
Response to Letter to the Editor by Palffy and Ghaziuddin.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1470, doi. 10.1002/ajmg.a.63116
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- Publication type:
- Article
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 813, doi. 10.1002/ajmg.a.63088
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- Publication type:
- Article
Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3364, doi. 10.1002/ajmg.a.62923
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- Publication type:
- Article
Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3049, doi. 10.1002/ajmg.a.62922
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- Article
Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6‐month longitudinal study.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 85, doi. 10.1002/ajmg.a.60685
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- Article
Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3058, doi. 10.1002/ajmg.a.38416
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- Article
Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3029, doi. 10.1002/ajmg.a.38465
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- Publication type:
- Article
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2628, doi. 10.1002/ajmg.a.38369
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- Article
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1539, doi. 10.1002/ajmg.a.38219
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- Article
Detecting Celiac Disease in Patients with Down Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3098, doi. 10.1002/ajmg.a.37879
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- Article
Death from supine asphyxia in late onset pompe disease: Two patients.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1928, doi. 10.1002/ajmg.a.37687
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- Article
Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1545, doi. 10.1002/ajmg.a.37650
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- Publication type:
- Article
National down syndrome patient database: Insights from the development of a multi-center registry study.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2520, doi. 10.1002/ajmg.a.37267
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- Article
Longitudinal polysomnographic findings in infantile Pompe disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 858, doi. 10.1002/ajmg.a.37007
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- Article
Polysomnographic findings in infantile Pompe disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3196, doi. 10.1002/ajmg.a.36227
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- Article
Timing of diagnosis of patients with pompe disease: Data from the pompe registry.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2431, doi. 10.1002/ajmg.a.36110
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- Publication type:
- Article
Response to the letter 'How to describe the clinical spectrum in Pompe disease?'.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 401, doi. 10.1002/ajmg.a.35668
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- Publication type:
- Article
Fractures in children with Pompe disease: a potential long-term complication.
- Published in:
- 2007
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- Publication type:
- journal article
Fractures in children with Pompe disease: a potentiallong-term complication.
- Published in:
- Pediatric Radiology, 2007, v. 37, n. 5, p. 437, doi. 10.1007/s00247-007-0428-y
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- Publication type:
- Article
Long‐term effectiveness of eliglustat treatment: A real‐world analysis from the International Collaborative Gaucher Group Gaucher Registry.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 8, p. 1500, doi. 10.1002/ajh.27347
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- Publication type:
- Article
Frequency of Celiac Disease in Individuals with Down Syndrome in the United States.
- Published in:
- Clinical Pediatrics, 2001, v. 40, n. 5, p. 249, doi. 10.1177/000992280104000502
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- Publication type:
- Article
Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 233, doi. 10.1159/000531865
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- Publication type:
- Article
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
- Published in:
- Cardiology in the Young, 2022, v. 32, n. 3, p. 364, doi. 10.1017/S1047951121002079
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- Publication type:
- Article
Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067052
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- Publication type:
- Article
Dysregulation of Multiple Facets of Glycogen Metabolism in a Murine Model of Pompe Disease.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056181
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- Publication type:
- Article
Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.
- Published in:
- Frontiers in Behavioral Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fnbeh.2015.00300
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- Publication type:
- Article
Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease.
- Published in:
- Dysphagia (0179051X), 2010, v. 25, n. 4, p. 277, doi. 10.1007/s00455-009-9252-x
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- Publication type:
- Article
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
- Published in:
- 2018
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- Publication type:
- journal article
Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in pompe disease.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 5, p. 722, doi. 10.1002/mus.24437
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- Publication type:
- Article