Search Result "Alkaptonuria"

Review Article

Structure-Function Relationship of Homogentisate 1,2-dioxygenase:Understanding the Genotype-Phenotype Correlations in the Rare GeneticDisease Alkaptonuria

Journal: Current Protein & Peptide Science
Volume: 24 Issue: 5 Year: 2023 Page: 380-392
Author(s):

Alkaptonuria, Ochronosis and Ochronotic Arthropathy in Mainland France and the Reunion Island. A Report of Clinical and Molecular Findings in 29 Patients

Journal: Current Rheumatology Reviews
Volume: 5 Issue: 2 Year: 2009 Page: 111-125
Author(s): Robert Aquaron, Santiago Rodriguez de Cordoba, Miguel Penalva, Catherine Badens, Hubert Roux

Review Article

Current Landscape on Development of Phenylalanine and Toxicity of itsMetabolites - A Review

Journal: Current Drug Safety
Volume: 19 Issue: 2 Year: 2024 Page: 208-217
Author(s): Himangshu Sekhar Maji

Review Article

Inborn Errors of Metabolism Screening in Neonates: Current Perspectivewith Diagnosis and Therapy

Journal: Current Pediatric Reviews
Volume: 18 Issue: 4 Year: 2022 Page: 274-285
Author(s): Suman Kumar Ray

Inherited Metabolic Diseases

Ebook: Mind Maps in Clinical Chemistry (Part I)
Volume: 1 Year: 2021
Author(s): Simmi Kharb
Doi: 10.2174/9789814998574121010011

Review Article

Current Scenario of Clinical Diagnosis to Identify Inborn Errors of Metabolism with Precision Profiling for Expanded Screening in Infancy in a Resource-limited Setting

Journal: Current Pediatric Reviews
Volume: 19 Issue: 1 Year: 2023 Page: 34-47
Author(s): Suman Kumar Ray

Review Article

Occurrence of Inborn Errors of Metabolism in Newborns, Diagnosis and Prophylaxis

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 21 Issue: 4 Year: 2021 Page: 592-616
Author(s): Alok Bharadwaj,Nitin Wahi,Aditya Saxena

Nanomaterials in Precision Medicine

Ebook: Precision Medicine and Human Health
Volume: 1 Year: 2024
Author(s): Akshay A. Jain
Doi: 10.2174/9789815223583124010022

A Review of Calcium Pyrophosphate Deposition (CPPD)

Journal: Current Medical Imaging
Volume: 12 Issue: 2 Year: 2016 Page: 118-129
Author(s): Christopher R. Trebino,George R. Matcuk,Dakshesh B. Patel,Stratos Christianakis,Christopher J. Gottsegen,Deborah M. Forrester,Eric A. White

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