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A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
Harvard
Unal, O, Orhan, D, Ostergaard, E, Tokatli, A, Dursun, A, Ozturk-Hismi, B, Coskun, T, Wibrand, F & Kalkanoglu-Sivri, HS 2013, 'A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy', Journal of Child Neurology, bind 28, nr. 11, s. 1505-08. https://doi.org/10.1177/0883073812458710
APA
Unal, O., Orhan, D., Ostergaard, E., Tokatli, A., Dursun, A., Ozturk-Hismi, B., Coskun, T., Wibrand, F., & Kalkanoglu-Sivri, H. S. (2013). A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy. Journal of Child Neurology, 28(11), 1505-08. https://doi.org/10.1177/0883073812458710
CBE
Unal O, Orhan D, Ostergaard E, Tokatli A, Dursun A, Ozturk-Hismi B, Coskun T, Wibrand F, Kalkanoglu-Sivri HS. 2013. A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy. Journal of Child Neurology. 28(11):1505-08. https://doi.org/10.1177/0883073812458710
MLA
Unal, Ozlem o.a.. "A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy". Journal of Child Neurology. 2013, 28(11). 1505-08. https://doi.org/10.1177/0883073812458710
Vancouver
Unal O, Orhan D, Ostergaard E, Tokatli A, Dursun A, Ozturk-Hismi B o.a. A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy. Journal of Child Neurology. 2013;28(11):1505-08. https://doi.org/10.1177/0883073812458710
Author
Bibtex
@article{c5ef52c596db4afba9e108884b761793,
title = "A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy",
abstract = "Nemaline rods are the pathologic hallmark of nemaline myopathy, but they have also been described as a secondary phenomenon in a variety of other disorders. Nemaline rods have not been reported in pyruvate carboxylase deficiency before. Here we present a patient with pyruvate carboxylase deficiency and nemaline rods detected on muscle biopsy. The nemaline rods may be due to cellular energy shortage and altered energy metabolism in pyruvate carboxylase deficiency, similar to that in the previously reported patients. The mechanism of nemaline rod formation may be associated with the role of pyruvate carboxylase in cellular energy pathways.",
author = "Ozlem Unal and Diclehan Orhan and Elsebet Ostergaard and Aysegul Tokatli and Ali Dursun and Burcu Ozturk-Hismi and Turgay Coskun and Flemming Wibrand and Kalkanoglu-Sivri, {H Serap}",
year = "2013",
doi = "10.1177/0883073812458710",
language = "English",
volume = "28",
pages = "1505--08",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "Sage Science Press (US)",
number = "11",
}
RIS
TY - JOUR
T1 - A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy
AU - Unal, Ozlem
AU - Orhan, Diclehan
AU - Ostergaard, Elsebet
AU - Tokatli, Aysegul
AU - Dursun, Ali
AU - Ozturk-Hismi, Burcu
AU - Coskun, Turgay
AU - Wibrand, Flemming
AU - Kalkanoglu-Sivri, H Serap
PY - 2013
Y1 - 2013
N2 - Nemaline rods are the pathologic hallmark of nemaline myopathy, but they have also been described as a secondary phenomenon in a variety of other disorders. Nemaline rods have not been reported in pyruvate carboxylase deficiency before. Here we present a patient with pyruvate carboxylase deficiency and nemaline rods detected on muscle biopsy. The nemaline rods may be due to cellular energy shortage and altered energy metabolism in pyruvate carboxylase deficiency, similar to that in the previously reported patients. The mechanism of nemaline rod formation may be associated with the role of pyruvate carboxylase in cellular energy pathways.
AB - Nemaline rods are the pathologic hallmark of nemaline myopathy, but they have also been described as a secondary phenomenon in a variety of other disorders. Nemaline rods have not been reported in pyruvate carboxylase deficiency before. Here we present a patient with pyruvate carboxylase deficiency and nemaline rods detected on muscle biopsy. The nemaline rods may be due to cellular energy shortage and altered energy metabolism in pyruvate carboxylase deficiency, similar to that in the previously reported patients. The mechanism of nemaline rod formation may be associated with the role of pyruvate carboxylase in cellular energy pathways.
U2 - 10.1177/0883073812458710
DO - 10.1177/0883073812458710
M3 - Journal article
C2 - 22965558
VL - 28
SP - 1505
EP - 1508
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 11
ER -
ID: 36766018