Genetically Confirmed Spinal Muscular Atrophy Type 3 With Epilepsy In A Malay Patient, A Case Report
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease affecting the anterior horn cells of the spinal cord. The diagnosis is usually based on the clinical presentation with or without muscle biopsy and the molecular detection of mutation in the SMNI gene. There have been a few reported cas...
Main Authors: | Ba, Zilfalil, Ms, Watihayati, My, Rozainah, R, Sutomo, H, Nishio, M, Matsuo, Hussin, Zabidi |
---|---|
Format: | Article |
Language: | English |
Published: |
2003
|
Subjects: | |
Online Access: | http://eprints.usm.my/11591/1/Genetically_Confirmed_Spinal_Muscular_Atrophy_Type_3_%28PPSPergigian%29.pdf |
Similar Items
-
Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients
by: Marzuki, Marini
Published: (2012) -
PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
by: Noguchi, Yoriko, et al.
Published: (2022) -
High Concentration or Combined Treatment of Antisense
Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2
Splicing in Patient Fibroblasts
by: Wijaya, Yogik Onky Silvana, et al.
Published: (2022) -
Lessons From The Molecular Biology Of Neonatal Hyperbilirubinaemia.
by: H., Van Rostenberghe, et al. -
Bilirubin - Uridine Diphosphate
Glucuronosyltransferase (Ugt1a1)
Gene Mutations Among Newborn Babies
In The Malay Population In Kelantan
With Hyperbilirubinaemia
by: Yusoff, Surini
Published: (2005)