Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.

AlBanji, Mohammed H; AlSaad, Abdulaziz N; AlAnazi, Riyam F; Aleisa, Zahra A; Alam, Dalya S; Alhashim, Aqeela H

AlBanji, Mohammed H; AlSaad, Abdulaziz N; AlAnazi, Riyam F; Aleisa, Zahra A; Alam, Dalya S; Alhashim, Aqeela H.

Afiliación

AlBanji MH; Department of Neuroscience, King Fahad Medical City, Riyadh, Saudi Arabia.
AlSaad AN; Department of neuroradiology, King Fahad Medical City, Riyadh, Saudi Arabia.
AlAnazi RF; Department of Neuroscience, King Fahad Medical City, Riyadh, Saudi Arabia.
Aleisa ZA; Department of Neuroscience, King Fahad Medical City, Riyadh, Saudi Arabia.
Alam DS; Department of Neuroscience, King Fahad Medical City, Riyadh, Saudi Arabia.
Alhashim AH; Department of Neuroscience, King Fahad Medical City, Riyadh, Saudi Arabia.

Mol Genet Metab Rep ; 25: 100665, 2020 Dec.

Article en En | MEDLINE | ID: mdl-33101984

Palabras clave

CH, Central Hypotonia; CK, Creatine Kinase; CNS, Central Nervous System; Central hypotonia; EEG, Electroencephalography; EMG, Electromyography; MH, Mixed Hypotonia; MRI brain; MRI, Magnetic resonance imaging; Mixed hypotonia; Molecular genetics; NCS, Nerve Conduction Studies; PH, Peripheral Hypotonia; Peripheral hypotonia; RNS, Repetitive Nerve Stimulation; VLCFA, Very-Long-Chain Fatty Acids; WES, Whole-Exome Sequencing; Whole exome sequencing; aCGH, Microarray-based Comparative Genomic Hybridization

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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita

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