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Pearson syndrome
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- Pearson syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of ... different types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Function ...
- Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Muscle Disorders/Specifics ... Muscle ...
- ... syndrome (described above), deletion of mitochondrial DNA causes Pearson syndrome. This severe condition affects the development of blood ... lead to the specific signs and symptoms of Pearson syndrome.It is not clear why the same deletion ...
- Bone Marrow Diseases (National Library of Medicine)Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains stem cells. The stem cells can develop into the ...
- Find a Neuromuscular Disease (Muscular Dystrophy Association)Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...
- What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDFNeuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
- ... Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and ...
- ... 10.1530/eje.0.1500627. Citation on PubMed Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep. 2013 Apr; ...
- ... Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial ...
- ... Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial ...