First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature-Reference-Cited by-同舟云学术

First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature

Published:2018-06-06 Issue: Volume:9 Page:
ISSN:1664-2392
Container-title:Frontiers in Endocrinology
language:
Short-container-title:Front. Endocrinol.

Author:

Ples Liana,Sima Romina-Marina,Nedelea Florina,Moga Marius

Publisher

Frontiers Media SA

Subject

Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy;Nicolaides;BMJ,1992

2. Recommendations for standardized human pedigree nomenclature;Bennet;Am J Hum Genet,1995

3. Role of Niemann-Pick type C disease mutations in dementia;Cupidi;J Alzheimers Dis,2017

4. Ein unbekanntes Krankheitsbild;Niemann;Jahrb Kinderheilkd,1914

5. Der morbus gaucher und die ihm ähnlichen krankheiten (die lipoidzellige splenohepatomegalie typus Niemann und die diabetische lipoidzellenhypoplasie der milz). Ergeb. Inn;Pick;Med Kinderheilkd,1926

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Amniotic Fluid Proteomics Analysis and In Vitro Validation to Identify Potential Biomarkers of Preterm Birth;Reproductive Sciences;2024-03-07

2. Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS);Genes;2023-08-03

3. Neonatal Hemochromatosis: Systematic Review of Prenatal Ultrasound Findings—Is There a Place for MRI in the Diagnostic Process?;Journal of Clinical Medicine;2023-04-03

4. Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma;International Journal of Women's Health;2022-10

5. Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China;Cytogenetic and Genome Research;2022