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Muscle phosphorylase kinase deficiency : a neutral metabolic variant or a disease? / Preisler, N; Orngreen, M C; Echaniz-Laguna, A; Laforet, P; Lonsdorfer-Wolf, E; Doutreleau, S; Geny, B; Akman, H O; Dimauro, S; Vissing, J.
I:
Neurology, Bind 78, Nr. 4, 2012, s. 265-8.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Preisler, N, Orngreen, MC, Echaniz-Laguna, A, Laforet, P, Lonsdorfer-Wolf, E, Doutreleau, S, Geny, B, Akman, HO, Dimauro, S
& Vissing, J 2012, '
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?',
Neurology, bind 78, nr. 4, s. 265-8.
https://doi.org/10.1212/WNL.0b013e31824365f9APA
Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H. O., Dimauro, S.
, & Vissing, J. (2012).
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Neurology,
78(4), 265-8.
https://doi.org/10.1212/WNL.0b013e31824365f9Vancouver
Preisler N, Orngreen MC, Echaniz-Laguna A, Laforet P, Lonsdorfer-Wolf E, Doutreleau S o.a.
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Neurology. 2012;78(4):265-8.
https://doi.org/10.1212/WNL.0b013e31824365f9Author
Preisler, N ; Orngreen, M C ; Echaniz-Laguna, A ; Laforet, P ; Lonsdorfer-Wolf, E ; Doutreleau, S ; Geny, B ; Akman, H O ; Dimauro, S ; Vissing, J. / Muscle phosphorylase kinase deficiency : a neutral metabolic variant or a disease?. I: Neurology. 2012 ; Bind 78, Nr. 4. s. 265-8.
Bibtex
@article{7c4e0bfe813746e88e6e313b8eb4fda9,
title = "Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?",
abstract = "To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).",
author = "N Preisler and Orngreen, {M C} and A Echaniz-Laguna and P Laforet and E Lonsdorfer-Wolf and S Doutreleau and B Geny and Akman, {H O} and S Dimauro and J Vissing",
year = "2012",
doi = "10.1212/WNL.0b013e31824365f9",
language = "English",
volume = "78",
pages = "265--8",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams & Wilkins",
number = "4",
}
RIS
TY - JOUR
T1 - Muscle phosphorylase kinase deficiency
T2 - a neutral metabolic variant or a disease?
AU - Preisler, N
AU - Orngreen, M C
AU - Echaniz-Laguna, A
AU - Laforet, P
AU - Lonsdorfer-Wolf, E
AU - Doutreleau, S
AU - Geny, B
AU - Akman, H O
AU - Dimauro, S
AU - Vissing, J
PY - 2012
Y1 - 2012
N2 - To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).
AB - To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).
U2 - 10.1212/WNL.0b013e31824365f9
DO - 10.1212/WNL.0b013e31824365f9
M3 - Journal article
C2 - 22238410
VL - 78
SP - 265
EP - 268
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 4
ER -
