Amena Nayyer
Bengaluru, KA, India
Last Updated: 09/26/2026
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Found 10 publications
Novel Compound Heterozygous NAGS Gene Variants in a Neonate with Hyperammonemic Encephalopathy: Importance of Early Metabolic Suspicion and Neuroimaging Clues.
Journal: Annals of Indian Academy of Neurology
Published: April 05, 2026
Unusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome.
Journal: BMJ case reports
Published: January 22, 2026
Developmental delay, white matter changes, and multiple endocrine hormone deficiencies in MADD-related disorders: a new case and phenotypic expansion.
Journal: Clinical dysmorphology
Published: January 19, 2026
Biotinidase deficiency deterioration in the second decade, presenting as treatable cerebellar ataxia and encephalopathy masquerading as demyelination.
Journal: BMJ case reports
Published: December 23, 2025
Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4.
Journal: BMJ case reports
Published: December 12, 2025
Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case report.
Journal: Clinical dysmorphology
Published: March 12, 2025
Showing 1-10 of 10
Last Updated: 09/26/2026