[Remarks on genetic enzyme defects of the erythrocyte]

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Brain : a journal of neurology·2005

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene.

Neuromuscular disorders : NMD·2001

Genomics and medicine: an anticipation. From Boolean Mendelian genetics to multifactorial molecular medicine.

Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie·2001

Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.

Croatian medical journal·2000

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

Neurology·2000

A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.

Human mutation·2000

Selenium in Aging and Longevity.

Biochimie·2026

Erythrocyte trans fatty acid accumulation in elderly sarcopenic patients: biochemical evidence for oxidative stress-driven cis-trans isomerization of membrane lipids.

Biochimie·2026

Cardiometabolic disease risk: the joint role of the UCP1, UCP2, UCP3, and FTO gene variants.

Biochimie·2026

Osmolytes suppress liquid‒liquid phase separation and the aggregation of Tau.

Biochimie·2026

Pediococcus acidilactici JP-10 fermented silkworm pupa peptides: antihypertensive effects and bioinformatic identification of potential ACE inhibitory peptides.

Biochimie·2026

Plant phospholipases D: functions, structures, and enzymatic activities.

Biochimie·2026

Association of miR-499, miR-27a, and miR-34a Gene Polymorphisms With Susceptibility to Type 2 Diabetes Mellitus in an Iranian Population: A Case-Control Study.

BioMed research international·2026

Atherosclerotic plaque fibroblasts derive from adventitial and medial Pdgfra-lineage-positive cells and predominantly maintain fibroblast identity.

Cardiovascular research·2026

Revealing Causal Proteomic Signatures of Hypertension: Systematic Insights From Proteome-Wide Mendelian Randomization.

Hypertension (Dallas, Tex. : 1979)·2026

Inheritance entropy: A model-independent method to probe the hereditary structure of cell lineage trees.

PRX life·2026

Early life high-fat diet exposure modulates adult metabolic phenotypes in Drosophila.

iScience·2026

Decoding the Link: Exploring FMO3 Gene Variations as a Key to Understanding Type Two Diabetes Through Bioinformatics and Case-Control Analyses.

Indian journal of clinical biochemistry : IJCB·2026

Related Experiment Videos

[Remarks on genetic enzyme defects of the erythrocyte]

Related Concept Videos

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene.

Genomics and medicine: an anticipation. From Boolean Mendelian genetics to multifactorial molecular medicine.

Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy.

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.

A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.

Selenium in Aging and Longevity.

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Osmolytes suppress liquid‒liquid phase separation and the aggregation of Tau.

Pediococcus acidilactici JP-10 fermented silkworm pupa peptides: antihypertensive effects and bioinformatic identification of potential ACE inhibitory peptides.

Plant phospholipases D: functions, structures, and enzymatic activities.

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Inheritance entropy: A model-independent method to probe the hereditary structure of cell lineage trees.

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[Remarks on genetic enzyme defects of the erythrocyte]

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