Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest

被引：0
|
作者：
Rattanapornsompong, Khanti [1 ]
Chetruengchai, Wanna [2 ,3 ]
Srichomthong, Chalurmpon [2 ,3 ]
Theerapanon, Thanakorn [1 ]
Porntaveetus, Thantrira [1 ,4 ]
Shotelersuk, Vorasuk [2 ,3 ]
机构：
[1] Chulalongkorn Univ, Fac Dent, Ctr Excellence Genom & Precis Dent, Dept Physiol,Geriatr Dent & Special Patients Care, Bangkok, Thailand
[2] Chulalongkorn Univ, Fac Med, Ctr Excellence Med Genom, Dept Pediat, Bangkok, Thailand
[3] King Chulalongkorn Mem Hosp, Excellence Ctr Genom & Precis Med, Bangkok, Thailand
[4] Chulalongkorn Univ, Ctr Excellence Genom & Precis Dent, Bangkok, Thailand
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2024年 / 194卷 / 06期
关键词：
CHONDROMATOSIS;
D O I：
10.1002/ajmg.a.63557
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：3
相关论文
共 50 条
  • [31] D-2-hydroxyglutaric aciduria. Report of two cases.
    Mahfoud, Antionieta
    Luisa Dominguez, Carmen
    Rashed, Mohamed
    Duran, Marinus
    Rodriguez, Tania
    Rodriguez, Daniel
    Landa, Vanesa
    INVESTIGACION CLINICA, 2009, 50 (03): : 369 - 375
  • [32] D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses
    Clarke, NF
    Andrews, I
    Carpenter, K
    Jakobs, C
    van der Knaap, MS
    Kirk, EP
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (04): : 523 - 527
  • [33] Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins
    Misra, VK
    Struys, EA
    O'Brien, W
    Salomons, GS
    Glover, T
    Jakobs, C
    Innis, JW
    MOLECULAR GENETICS AND METABOLISM, 2005, 86 (1-2) : 200 - 205
  • [34] D-2-Hydroxyglutaric aciduria: Unravelling the biochemical pathway and the genetic defect
    Struys, EA
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (01) : 21 - 29
  • [35] D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: Coincidence, or linked disorders?
    Korman, SH
    Salomons, GS
    Gutman, A
    Brooks, R
    Jakobs, C
    NEUROPEDIATRICS, 2004, 35 (03) : 151 - 156
  • [36] D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy
    Eeg-Olofsson, O
    Zhang, WW
    Olsson, Y
    Jagell, S
    Hagenfeldt, L
    JOURNAL OF CHILD NEUROLOGY, 2000, 15 (07) : 488 - 492
  • [37] Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria
    Struys, EA
    Verhoeven, NM
    Roos, B
    Jakobs, C
    CLINICAL CHEMISTRY, 2003, 49 (07) : 1133 - 1138
  • [38] Child with D-2-Hydroxyglutaric Aciduria Type II: A Rare Neurometabolic Disorder
    Srinivasaraghavan, Rangan
    Sharma, Suvasini
    Kratz, Lisa
    Malik, Prateek
    Yoganathan, Sangeetha
    Danda, Sumita
    Oommen, Samuel Philip
    ANNALS OF INDIAN ACADEMY OF NEUROLOGY, 2021, 24 (06) : 933 - 934
  • [39] D-2-hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage
    Wang, X
    Jakobs, C
    Bawle, EV
    JOURNAL OF INHERITED METABOLIC DISEASE, 2003, 26 (01) : 92 - 94
  • [40] Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination
    Honey, EM
    van Rensburg, M
    Knoll, DP
    Mienie, LJ
    van de Werke, I
    Beighton, P
    CLINICAL DYSMORPHOLOGY, 2003, 12 (02) : 95 - 99
12345