Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

被引:7
|
作者
Pervaiz, M. Ali [2 ]
Patterson, Marc C. [1 ,3 ,4 ]
Struys, Eduard A. [5 ]
Salomons, Gajja S. [5 ]
Jakobs, Cornelis [5 ]
Oglesbee, Devin [1 ,2 ]
Kirmani, Salman [1 ,4 ]
机构
[1] Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA
[2] Mayo Clin, Dept Lab Med & Pathol, Biochem Genet Lab, Rochester, MN 55905 USA
[3] Mayo Clin, Dept Neurol, Rochester, MN USA
[4] Mayo Clin, Dept Pediat & Adolescent Med, Rochester, MN USA
[5] Vrije Univ Amsterdam Med Ctr, Metab Unit, Dept Clin Chem, Amsterdam, Netherlands
关键词
DISEASE;
D O I
10.1007/s00415-011-5977-1
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1564 / 1565
页数:2
相关论文
共 50 条
  • [31] 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
  • [32] Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria
    Yeetong, Patra
    Phewplung, Teerasak
    Kamolvisit, Wuttichart
    Suphapeetiporn, Kanya
    Shotelersuk, Vorasuk
    SKELETAL RADIOLOGY, 2018, 47 (11) : 1577 - 1582
  • [33] Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients
    Choo, Hye Jung
    Cho, Tae-Joon
    Song, Junghan
    Tiller, George E.
    Lee, Sun Hee
    Park, Gunbo
    Lee, In Sook
    Lachman, Ralph
    Superti-Furga, Andrea
    Kim, Ok-Hwa
    SKELETAL RADIOLOGY, 2012, 41 (11) : 1479 - 1487
  • [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] 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
  • [36] Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I
    Murphey, Kristen
    George, Paul E.
    Pencheva, Bojana
    Porter, Christopher C.
    Wechsler, Stephanie Burns
    Gambello, Michael J.
    Li, Hong
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (09) : 2707 - 2711
  • [37] 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
  • [38] Novel neuropathological findings in a long-term survivor of D-2-hydroxyglutaric aciduria type 1
    Tanikawa, Satoshi
    Andrade, Danielle M.
    Rogaeva, Ekaterina
    Tartaglia, Maria Carmela
    Kovacs, Gabor G.
    VIRCHOWS ARCHIV, 2024, 485 (03) : 557 - 561
  • [39] D-2-Hydroxyglutaric Aciduria Type I: An Over Looked Cause of Non-Accidental Injury
    Alghamdi, Thamer
    AlQahtani, Bader
    Al Eissa, Majid
    Khan, Abdul Rafiq
    Alfadhel, Majid
    Alsaleh, Norah
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1022 - 1023
  • [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