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L-2-hydroxyglutaric aciduria – review of literature and case series
Sibtain Ahmed
, Ayra Siddiqui
, Ralph J. DeBerardinis
, Min Ni
, Wen Gu Lai
, Feng Cai
, Hieu S. Vu
,
Bushra Afroze
Department of Pathology and Laboratory Medicine, Medical College, Pakistan
Department of Paediatrics and Child Health, Division of Woman and Child Health, Medical College, Pakistan
Research output
:
Contribution to journal
›
Article
›
peer-review
11
Citations (Scopus)
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Neuroscience
Magnetic Resonance Imaging of Brain
100%
Dysarthria
50%
Basal Ganglia
50%
Magnetic Resonance Imaging
50%
Tremor
50%
Neurodegenerative Disorder
50%
Organic Acid
50%
Globus pallidus
50%
Gene Sequence
50%
Tendon Reflex
50%
Dentate Nucleus
50%
Ataxia
50%
Leukodystrophy
50%
Leukoencephalopathy
50%
Medicine and Dentistry
Aciduria
100%
Magnetic Resonance Imaging of Brain
22%
2 Hydroxyglutaric Acid
22%
Anthropometry
11%
Magnetic Resonance Imaging
11%
Case Presentation
11%
Autosomal Recessive Inheritance
11%
Degenerative Disease
11%
Gene Sequence
11%
Ataxia
11%
Basal Ganglia
11%
Globus pallidus
11%
Dysarthria
11%
Tendon Reflex
11%
Clonus
11%
Heterozygote
11%
Epileptic Seizure
11%
Dentate Nucleus
11%
Leukodystrophy
11%
Leukoencephalopathy
11%