Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2026

Complete bilateral spontaneous pneumothorax at moderate altitude revealing Marfan syndrome: a case report.

AME case reports·2026

External Validation of the PROMOD Strategy, Combining PI-RADS Score and PSA Density, to Select Patients for Prostatic Biopsies.

Research and reports in urology·2026

Zone-Specific PSA Density from AI-Assisted mp-MRI as a Predictor of Prostate Cancer in the PSA 4-20 ng/mL Range.

Journal of clinical medicine·2026

Patella Alta on X-Ray and MRI: Diagnostic Agreement and Clinical Correlations.

Diagnostics (Basel, Switzerland)·2026

Diagnostic Performance of MRI for Posterolateral Meniscocapsular Detachment in ACL-Injured Knees: A Retrospective Study.

Diagnostics (Basel, Switzerland)·2026

Related Experiment Videos

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit

Related Concept Videos

Ethics in pre-ART genetics: a missed X-linked Menkes disease case.

Can tibio-femoral kinematic and kinetic parameters reveal poor functionality and underlying deficits after total knee replacement? A systematic review.

[Long and short QT syndromes : Emergency treatment and secondary prophylaxis].

Evaluation of tumor-infiltrating lymphocytes and association with prognosis in BRCA-mutated breast cancer.

Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG.

Garlic diallyl disulfide and diallyl trisulfide mitigates effects of pro-oxidant induced cellular stress and has immune modulatory function in LPS-stimulated porcine epithelial cells.

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Bracing versus balloon kyphoplasty for acute osteoporotic vertebral fractures with poor prognostic radiological factors: a propensity score-matched comparison.

Complete bilateral spontaneous pneumothorax at moderate altitude revealing Marfan syndrome: a case report.

External Validation of the PROMOD Strategy, Combining PI-RADS Score and PSA Density, to Select Patients for Prostatic Biopsies.

Zone-Specific PSA Density from AI-Assisted mp-MRI as a Predictor of Prostate Cancer in the PSA 4-20 ng/mL Range.

Patella Alta on X-Ray and MRI: Diagnostic Agreement and Clinical Correlations.

Diagnostic Performance of MRI for Posterolateral Meniscocapsular Detachment in ACL-Injured Knees: A Retrospective Study.

Related Experiment Videos

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit

Related Concept Videos

Related Articles