Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency-Reference-Cited by-同舟云学术

Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency

Published:2018-06-27 Issue:8 Volume:38 Page:607-616
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Egloff Charles¹,Eldin de Pecoulas Aurelia¹,Mechler Charlotte²,Tassin Mikael¹,Mairovitz Valerie¹,Corrizi Frederic¹,Dussaux Chloe¹,Boutron Audrey³,Simon Isabelle⁴,Guet Agnes⁵,Sibiude Jeanne¹,Mandelbrot Laurent¹,Picone Olivier¹^ORCID

Affiliation:

1. Service de Gynécologie Obstetrique; Hopital Louis-Mourier; Colombes France

2. Department of Pathology; Hopital Universitaire Robert-Debre; Paris France

3. Biochemistry Department; Hopital Bicetre; Le Kremlin-Bicetre France

4. Radiology; Hopital Louis-Mourier; Colombes France

5. Pediatric Neurology; Hopital Louis-Mourier; Colombes France

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.5282/fullpdf

Reference26 articles.

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3. Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging;Robinson;Prenat Diagn,2001

4. In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency;Zand;Am J Neuroradiol,2003

5. Pyruvate dehydrogenase E1α subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms;Wada;Brain Dev,2004

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1. Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency;Neurology;2024-08-27

2. Pyruvate dehydrogenase deficiency in a young boy: a clinical case;Journal of Clinical Practice;2024-07-15

3. Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency;2024-04-10

4. Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B;Frontiers in Endocrinology;2023-07-07

5. Fetal periventricular pseudocysts: is MRI evaluation needed? What is the long-term neurodevelopmental outcome? Systematic review and meta-analysis;Archives of Gynecology and Obstetrics;2022-06-08