Akella Radha Rama Devi
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View article: Clinical, Biochemical and Molecular Characterization of Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency
Clinical, Biochemical and Molecular Characterization of Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency Open
Short-chain enoyl-CoA hydratase (ECHS1) (OMIM 602292) deficiency is a rare autosomal recessive inborn error of metabolism caused by pathogenic variants in the ECHS1 gene. Features of encephalopathy, movement disorders, developmental delay,…
View article: Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations Open
Human nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date. However, the recent introduction of newborn screening for…
View article: Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients Open
Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian p…
View article: 1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum
1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum Open
Chromosome 1q42.12q42.2 deletions are documented as “disease causing” and show overlapping phenotypes depending on the genes involved in the deletion. In this report, we detected a 5.8-Mb deletion encompassing the chromosome 1q42.12q42.2 r…
View article: Correlation between Total Plasma Homocysteine Levels and Oxidative DNA Damage in Healthy Indian Adults
Correlation between Total Plasma Homocysteine Levels and Oxidative DNA Damage in Healthy Indian Adults Open
Introduction: Association of serum folate, Vitamin B6 and B12 deficiencies with hyperhomocysteinemia are well-documented. Several studies on Indian population, address the association of hyperhomocysteinemia with numerous diseases, but pop…
View article: Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene
Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene Open
This is the first reported case of prosaposin (PSAP) mutation from India manifesting as an acute neuronal Gaucher disease-like condition. A 2-month-old male baby presented with encephalopathy, resistant tonic–clonic seizures, moderate hepa…
View article: Spectrum of mutations in the <i>SMPD1</i> gene in Asian Indian patients with acid sphingomyelinase deficient Niemann–Pick disease
Spectrum of mutations in the <i>SMPD1</i> gene in Asian Indian patients with acid sphingomyelinase deficient Niemann–Pick disease Open
Corrigendum to: “Spectrum of Mutations in the SMPD1 Gene in Asian Indian Patients with Acid Sphingomyelinase Deficient Niemann–Pick Disease, Am J Med Genet A. 2016 Oct; 170A(10):2719–2730” Authors Ashwin Dalal This article corrects: Spectr…