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Precision Health Database


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Rare Diseases

Last data update: Dec 02, 2023. (Total: 62228 Documents since 2012)
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Query Trace: Gaucher Disease[original query]>>Original Studies[Product Type]
Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital.
Magar Suvarna et al. Cureus 2022 14(10) e29868
Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.
Eskes Eline C B et al. Orphanet journal of rare diseases 2022 17(1) 383
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks.
Pehrsson Minja et al. Molecular genetics and metabolism reports 2022 33100911
Newborn screening for Gaucher disease in Japan.
Sawada Takaaki et al. Molecular genetics and metabolism reports 2022 31100850
A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.
Jones Tara A et al. Journal of assisted reproduction and genetics 2022
Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.
Goyal Manisha et al. Annals of Indian Academy of Neurology 2022 24(5) 686-692
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.
Kishnani Priya S et al. Molecular genetics and metabolism 2022
Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.
Daykin Emily et al. Molecular genetics and metabolism 2021
Counseling for personal health implications identified during reproductive genetic carrier screening.
Gbur Samantha et al. Prenatal diagnosis 2021
Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey.
Miyamoto Toshihiro et al. Internal medicine (Tokyo, Japan) 2021 60(5) 699-707
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.
Mehta Atul et al. Orphanet journal of rare diseases 2021 Jan 16(1) 8
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders Karen A et al. International journal of neonatal screening 2020 Jun 6(2)
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.
Garbade Sven F et al. PloS one 2020 15(4) e0230898
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz Gloria et al. JIMD reports 2020 Jan 51(1) 53-61
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien Yin-Hsiu et al. Orphanet journal of rare diseases 2020 Feb 15(1) 38
Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening.
Hannah-Shmouni Fady et al. Molecular genetics and metabolism reports 2019 Mar 1819-21
Children with type 1 Gaucher disease: Changing profiles in the 21st century.
Elstein Deborah et al. Blood cells, molecules & diseases 2018 Feb 6893-96
Fetal gene therapy for neurodegenerative disease of infants.
Massaro Giulia et al. Nature medicine 2018 Jul
A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.
Lei Ke et al. Orphanet journal of rare diseases 2018 Apr 13(1) 48
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.
Yang Amy C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun 19(6) 652-658
Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers.
Mulhern Maureen et al. Journal of genetic counseling 2017 Sep
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
Burton Barbara K et al. The Journal of pediatrics 2017 Jul
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.
Bravo Heydy et al. Molecular genetics and metabolism reports 2017 Sep 1292-97
Spectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre.
Cheema Huma Arshad et al. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2016 Jun 26(6) 498-502
Successful newborn screening for Gaucher disease using fluorometric assay in China.
Kang Lulu et al. Journal of human genetics 2017 Mar
Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
Navarrete-Martínez Juana Inés et al. Molecular genetics and metabolism 2017 Mar
Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.
Ortiz-Cabrera N V et al. Molecular genetics and metabolism reports 2016 Dec 979-85
Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.
Utz Jeanine et al. Molecular genetics and metabolism 2016 Feb 117(2) 172-8
Knowledge of and interest in genetic results among Parkinson disease patients and caregivers.
Prenatal healthcare providers' Gaucher disease carrier screening practices.
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