Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya

Abstract Background Limited or absent genetic counseling and testing resources in low- and medium-income countries lead to missed or late diagnoses for treatable metabolic conditions with irreversible complications. In some communities, misunderstanding about the etiology of a genetic condition may...

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書誌詳細

主要な著者:	Lucy N. Wainaina Mungai, Charles Njeru, Allan Njoroge, Michuki Maina, Syokau Ilovi, Ruth W. Nduati, Dalton Wamalwa, Beatrice Odongkara, Danny E. Miller
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2025-11-01
シリーズ:	Orphanet Journal of Rare Diseases
主題:	Mucopolysaccharidosis type II (MPS II) Lysosomal storage disorder Genetic counseling Genetic testing Kenya Low- and middle-income countries (LMICs)
オンライン･アクセス:	https://doi.org/10.1186/s13023-025-03881-3
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