[HTML][HTML] Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
P Serrano-Lorenzo, M Rabasa, J Esteban… - Genes, 2022 - mdpi.com
Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate.
LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM# 612933) …
LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM# 612933) …
Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant
K Sudo, M Maekawa, A Tomonaga, T Tsukada… - Human genetics, 1992 - Springer
We have previously detected a single base substitution of G by A at the Arg codon CGC in
exon 4 of the mutant lactate dehydrogenase (LDH) gene, an unstable LDH-B variant (case …
exon 4 of the mutant lactate dehydrogenase (LDH) gene, an unstable LDH-B variant (case …
Genetic analysis of a family of lactate dehydrogenase A subunit deficiency
Y Takahashi, H Miyajima, E Kaneko - Internal medicine, 1995 - jstage.jst.go.jp
Lactate dehydrogenase Asubunit (LDH-A) deficiency is an inherited metabolic myopathy of
glycolysis. Theseverity of this disease varies fromcase to case. Wereported non …
glycolysis. Theseverity of this disease varies fromcase to case. Wereported non …
First case of missense mutation (LDH-H: R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient
K Hidaka, N Ueda, I Hirata, Y Watanabe… - Journal of human …, 1999 - nature.com
Complete deficiency of lactate dehydrogenase (LDH) subunit H was identified in a 41-year-
old woman with paralysis of her left lower limb. The propositus had extremely low LDH …
old woman with paralysis of her left lower limb. The propositus had extremely low LDH …
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
K Sudo, M Maekawa, N Houki, T Okuda, S Akizuki… - Clinical …, 1999 - Elsevier
Objective: 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 …
pattern involving deficiency only of LD-1 and LD-2 in serum and erythrocytes. LD activity in …
Molecular, genetic and biochemical characterization of lactate dehydrogenase-A enzyme activity mutations in Mus musculus
W Pretsch, B Chatterjee, J Favor, S Merkle… - Mammalian …, 1998 - Springer
Four independent heterozygous lactate dehydrogenase (LDH) mutations with approximately
60% of wild-type enzyme activity in whole blood have been recovered. The mutant line Ldh1 …
60% of wild-type enzyme activity in whole blood have been recovered. The mutant line Ldh1 …
Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
AKY Kwong, SSN Wong, RJT Rodenburg… - JIMD …, 2021 - Wiley Online Library
Background d‐lactate, one of the isomers of lactate, exists in a low concentration in healthy
individuals and it can be oxidized to pyruvate catalyzed by d‐lactate dehydrogenase …
individuals and it can be oxidized to pyruvate catalyzed by d‐lactate dehydrogenase …
[HTML][HTML] Lactate dehydrogenase D is a general dehydrogenase for D-2-hydroxyacids and is associated with D-lactic acidosis
S Jin, X Chen, J Yang, J Ding - Nature Communications, 2023 - nature.com
Mammalian lactate dehydrogenase D (LDHD) catalyzes the oxidation of D-lactate to
pyruvate. LDHD mutations identified in patients with D-lactic acidosis lead to deficient LDHD …
pyruvate. LDHD mutations identified in patients with D-lactic acidosis lead to deficient LDHD …
Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency
M Maekawa, K Sudo, T Kanno, SSL Li - Biochemical and biophysical …, 1990 - Elsevier
Human lactate dehydrogenase-A mutant gene was isolated from the genomic DNA library of
a patient deficient in LDH-A (Muscle) subunit. The nucleotide sequences of seven protein …
a patient deficient in LDH-A (Muscle) subunit. The nucleotide sequences of seven protein …
Molecular characterization of gene expression in human lactate dehydrogenase‐A deficiency
Recurrent rhabdomyolysis due to decreased glycolysis occurred during strenuous exercise
in patients with lactate dehydrogenase-A-subunit (LDH-A; muscle) deficiency. Enzyme …
in patients with lactate dehydrogenase-A-subunit (LDH-A; muscle) deficiency. Enzyme …