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Prabhakar S Kedar Selected Research

Hemolytic Anemia

10/2021Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.
2/2021Genotypic analysis of SLC4A1 A858D mutation in Indian population associated with distal renal tubular Acidosis (dRTA) coupled with hemolytic anemia.
6/2019Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).
1/2019Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.
1/2019Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.
10/2010Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.

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Prabhakar S Kedar Research Topics

Disease

6Hemolytic Anemia
10/2021 - 10/2010
3Intellectual Disability (Idiocy)
10/2021 - 01/2002
3Inborn Genetic Diseases (Disease, Hereditary)
04/2020 - 01/2019
2Renal Tubular Acidosis (Distal Renal Tubular Acidosis)
02/2021 - 10/2010
2hereditary Xerocytosis
04/2020 - 11/2019
2Pyruvate Kinase Deficiency of Red Cells
11/2019 - 11/2006
2Congenital Methemoglobinemia
03/2011 - 01/2002
2Cyanosis
05/2008 - 01/2002
1Hereditary Spherocytosis
02/2021
1Dehydration (Water Stress)
04/2020
1Diamond-Blackfan Anemia (Anemia, Diamond Blackfan)
11/2019
1Nervous System Diseases (Neurological Disorders)
01/2019
1Anemia
05/2011
1Methemoglobinemia
05/2008
1Hyperbilirubinemia
11/2006

Drug/Important Bio-Agent (IBA)

3Cytochrome-B(5) Reductase (Methemoglobin Reductase)IBA
03/2011 - 01/2002
2dirhodium tetraacetate (DRTA)IBA
02/2021 - 10/2010
2Proteins (Proteins, Gene)FDA Link
02/2021 - 04/2020
2Phosphates (Orthophosphate)IBA
11/2019 - 01/2019
2Glucose (Dextrose)FDA LinkGeneric
11/2019 - 01/2019
2IsomerasesIBA
11/2019 - 01/2019
2Adenylate KinaseIBA
11/2019 - 06/2019
2Glucose-6-Phosphate Isomerase (Phosphoglucose Isomerase)IBA
01/2019 - 01/2019
2NAD (NADH)IBA
05/2008 - 01/2002
1HexokinaseIBA
10/2021
1AnionsIBA
02/2021
1Ion Channels (Ion Channel)IBA
04/2020
1Monovalent CationsIBA
04/2020
1Membrane Proteins (Integral Membrane Proteins)IBA
11/2019
1EnzymesIBA
11/2019
1CationsIBA
05/2011
1Flavin-Adenine Dinucleotide (FAD)IBA
05/2008
1Pyruvate KinaseIBA
11/2006
1Adenosine Triphosphate (ATP)IBA
11/2006
1Hemoglobins (Hemoglobin)IBA
01/2002