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A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

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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., ... 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

MLA

Vancouver

Author

Unal, Ozlem ; Orhan, Diclehan ; Ostergaard, Elsebet ; Tokatli, Aysegul ; Dursun, Ali ; Ozturk-Hismi, Burcu ; Coskun, Turgay ; Wibrand, Flemming ; Kalkanoglu-Sivri, H Serap. / A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy. I: Journal of Child Neurology. 2013 ; Bind 28, Nr. 11. s. 1505-08.

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

VL - 28

SP - 1505

EP - 1508

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 11

ER -

ID: 36766018