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D-glyceric aciduria

Overview of attention for article published in Anais da Academia Brasileira de Ciências, August 2015
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Title
D-glyceric aciduria
Published in
Anais da Academia Brasileira de Ciências, August 2015
DOI 10.1590/0001-3765201520150021
Pubmed ID
Authors

Nádia W Dimer, Patrícia F Schuck, Emilio L Streck, Gustavo C Ferreira

Abstract

Inherited metabolic diseases are a heterogeneous group of diseases caused by a punctual defect in cell metabolism, resulting in the accumulation of toxic intermediate metabolites or in the lack of important biomolecules for adequate cell functioning. D-glyceric aciduria is an inherited disease caused by a deficiency of glycerate 2-kinase activity, whose pathophysiological mechanisms remain unknown. The main clinical and neurological symptoms seen in affected patients include progressive encephalopathy, hypotonia, psychomotor and mental retardation, microcephaly, seizures, speech delay, metabolic acidosis, and even death. In this review we shall discuss these clinical and biochemical findings, as well as diagnosis and treatment of affected patients in order to raise awareness about this condition.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Costa Rica 1 5%
Unknown 21 95%

Demographic breakdown

Readers by professional status Count As %
Professor 4 18%
Researcher 3 14%
Student > Bachelor 3 14%
Student > Doctoral Student 2 9%
Student > Postgraduate 2 9%
Other 2 9%
Unknown 6 27%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 5 23%
Medicine and Dentistry 5 23%
Pharmacology, Toxicology and Pharmaceutical Science 2 9%
Nursing and Health Professions 1 5%
Computer Science 1 5%
Other 3 14%
Unknown 5 23%