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Lactate dehydrogenase deficiency

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Lactate dehydrogenase deficiency" returned 0 free, full-text review articles. First 0 results:
A novel in-frame deletion mutation in a case of lactate dehydrogenase (LD) H subunit deficiency showing an atypical LD isoenzyme pattern in serum and erythrocytes.
Last Updated: Sep 05, 2019

We report a case showing an atypical lactate dehydrogenase (LD) isoenzyme pattern involving deficiency only of LD-1 and LD-2 in serum and erythrocytes. LD activity in serum from this patient was extremely low, similar to complete LD-H deficiency, and also that in erythrocytes was low.

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Lactate dehydrogenase deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Lactate dehydrogenase deficiency" returned 5 free, full-text research articles. First few results:
Identification of human D lactate dehydrogenase deficiency.
Last Updated: Apr 01, 2020

Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase ...

Hereditary lactate dehydrogenase M-subunit deficiency with late-developing pustular psoriasis-like lesions.
Last Updated: Dec 10, 2019

Hereditary lactate dehydrogenase (LDH) M-subunit deficiency is very rare and we have found reports of close to a dozen cases in the published work, two of which were associated with pustular psoriasis-like lesions. We report a third case of pustular psoriasis-like eruptions associated ...

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