Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria-Reference-Cited by-同舟云学术

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Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria

Published:2018-05-10 Issue:11 Volume:47 Page:1577-1582
ISSN:0364-2348
Container-title:Skeletal Radiology
language:en
Short-container-title:Skeletal Radiol

Author:

Yeetong Patra,Phewplung Teerasak,Kamolvisit Wuttichart,Suphapeetiporn Kanya,Shotelersuk Vorasuk

Funder

Royal Golden Jubilee Advanced Program

Chulalongkorn Academic Advancement into Its 2nd Century Project

Publisher

Springer Science and Business Media LLC

Subject

Radiology Nuclear Medicine and imaging

Link

http://link.springer.com/article/10.1007/s00256-018-2963-z/fulltext.html

Reference10 articles.

1. Vissers LE, Fano V, Martinelli D, Campos-Xavier B, Barbuti D, Cho TJ, et al. Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A. 2011;155A(11):2609–16.

2. Bayar A, Acun C, Dursun A, Verhoeven N, Bonafe L, Keser S, et al. Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation. Clin Dysmorphol. 2005;14(1):7–11.

3. Choo HJ, Cho TJ, Song J, Tiller GE, Lee SH, Park G, et al. Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients. Skelet Radiol. 2012;41(11):1479–87.

4. Honey EM, van Rensburg M, Knoll DP, Mienie LJ, van de Werke I, Beighton P. Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination. Clin Dysmorphol. 2003;12(2):95–9.

5. Talkhani IS, Saklatvala J, Dwyer J. D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis. Skelet Radiol. 2000;29(5):289–92.

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. Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D‐2‐hydroxyglutaric aciduria: A 22‐year quest;American Journal of Medical Genetics Part A;2024-02-02

2. An intermediate phenotype in IDH related enchondromatosis spectrum;European Journal of Medical Genetics;2023-03

3. Neuronal Death, Glial Reactivity, Microglia Activation, Oxidative Stress and Bioenergetics Impairment Caused by Intracerebroventricular Administration of D-2-hydroxyglutaric Acid to Neonatal Rats;Neuroscience;2021-09

4. IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria;Pediatric Hematology and Oncology;2020-03-13

5. Preputial Haemangioma and Vascular Malformations;Normal and Abnormal Prepuce;2020

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