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Meenakshi Bhat Selected Research

Type IIB Autosomal Recessive Cutis Laxa

11/2013Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

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Meenakshi Bhat Research Topics

Disease

1Noonan Syndrome (Female Pseudo-Turner Syndrome)
12/2020
1Inborn Genetic Diseases (Disease, Hereditary)
12/2020
1Neuralgia (Stump Neuralgia)
11/2020
1Acquired Immunodeficiency Syndrome (AIDS)
01/2020
1Down Syndrome (Down's Syndrome)
01/2019
1Rheumatoid Arthritis
01/2019
1Carpal Tunnel Syndrome
01/2019
1Glucose Intolerance
11/2017
1Niemann-Pick Diseases (Niemann Pick Disease)
10/2016
1Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
09/2015
1Periodontitis
03/2015
1Contact Dermatitis (Eczema, Contact)
01/2014
1recessive Cutis laxa
11/2013
1Muscle Hypotonia (Hypotonia)
11/2013
1Type IIB Autosomal Recessive Cutis Laxa
11/2013
1Fetal Growth Retardation (Intrauterine Growth Retardation)
11/2013
1Gaucher Disease (Gaucher's Disease)
08/2010

Drug/Important Bio-Agent (IBA)

1Mitogen-Activated Protein KinasesIBA
12/2020
1Immunosuppressive Agents (Immunosuppressants)IBA
01/2019
1Retinaldehyde (Retinal)IBA
01/2019
1Growth Hormone (Somatotropin)IBA
11/2017
1Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA
10/2016
1AcidsIBA
10/2016
1N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA
09/2015
1EnzymesIBA
09/2015
1Cathepsin CIBA
03/2015
1Nonsense Codon (Nonsense Mutation)IBA
03/2015
1Irritants (Vesicants)IBA
01/2014
1delta-1-pyrroline-5-carboxylateIBA
11/2013
1Oxidoreductases (Dehydrogenase)IBA
11/2013
1Proline (L-Proline)FDA Link
11/2013
1Glucosylceramides (Glucocerebrosides)IBA
08/2010
1SaposinsIBA
08/2010
1LipidsIBA
08/2010

Therapy/Procedure

1Enzyme Replacement Therapy
11/2020
1Therapeutics
01/2020
1Replacement Arthroplasty
01/2019