Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
41239557 (PubMed )
Supplement: awaf430_supplementary_data.pdf
Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.
Zhang H et al.
Heliyon, 2024
Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.
Fortin O et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.
Liu J et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024
Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.
Akaba Y et al.
Clinical Case Reports, 2021
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K et al.
Journal of Medical Genetics, 2019
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara E et al.
Molecular Genetics and Metabolism Reports, 2016
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
Ferriero R et al.
Annals of Clinical and Translational Neurology, 2014
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Quintana E et al.
Clinical Genetics, 2010
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