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GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

Standard

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. / Sperb-Ludwig, Fernanda; Acosta, AX; Ribeiro, EM; Kim, CA; Gandelman Horovitz, DD; Boy, R; Rodovalho-Doriqui, MJ; Lourenço, LM; Santos, ES; Braulke, Thomas; Pohl, Sandra; Schwartz, IVD.

in: INT J BIOCHEM CELL B, Jahrgang 92, 2017, S. 90-94.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Sperb-Ludwig, F, Acosta, AX, Ribeiro, EM, Kim, CA, Gandelman Horovitz, DD, Boy, R, Rodovalho-Doriqui, MJ, Lourenço, LM, Santos, ES, Braulke, T, Pohl, S & Schwartz, IVD 2017, 'GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms', INT J BIOCHEM CELL B, Jg. 92, S. 90-94. https://doi.org/10.1016/j.biocel.2017.09.006

APA

Sperb-Ludwig, F., Acosta, AX., Ribeiro, EM., Kim, CA., Gandelman Horovitz, DD., Boy, R., Rodovalho-Doriqui, MJ., Lourenço, LM., Santos, ES., Braulke, T., Pohl, S., & Schwartz, IVD. (2017). GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. INT J BIOCHEM CELL B, 92, 90-94. https://doi.org/10.1016/j.biocel.2017.09.006

Vancouver

Sperb-Ludwig F, Acosta AX, Ribeiro EM, Kim CA, Gandelman Horovitz DD, Boy R et al. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. INT J BIOCHEM CELL B. 2017;92:90-94. https://doi.org/10.1016/j.biocel.2017.09.006

Bibtex

@article{f7ed423fb93f4fec9424e2c5a55055d0,
title = "GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms",
author = "Fernanda Sperb-Ludwig and AX Acosta and EM Ribeiro and CA Kim and {Gandelman Horovitz}, DD and R Boy and MJ Rodovalho-Doriqui and LM Louren{\c c}o and ES Santos and Thomas Braulke and Sandra Pohl and IVD Schwartz",
year = "2017",
doi = "10.1016/j.biocel.2017.09.006",
language = "English",
volume = "92",
pages = "90--94",
journal = "INT J BIOCHEM CELL B",
issn = "1357-2725",
publisher = "Elsevier Limited",

}

RIS

TY - JOUR

T1 - GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

AU - Sperb-Ludwig, Fernanda

AU - Acosta, AX

AU - Ribeiro, EM

AU - Kim, CA

AU - Gandelman Horovitz, DD

AU - Boy, R

AU - Rodovalho-Doriqui, MJ

AU - Lourenço, LM

AU - Santos, ES

AU - Braulke, Thomas

AU - Pohl, Sandra

AU - Schwartz, IVD

PY - 2017

Y1 - 2017

U2 - 10.1016/j.biocel.2017.09.006

DO - 10.1016/j.biocel.2017.09.006

M3 - SCORING: Journal article

VL - 92

SP - 90

EP - 94

JO - INT J BIOCHEM CELL B

JF - INT J BIOCHEM CELL B

SN - 1357-2725

ER -