The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

RV Velho; FL Harms; T Danyukova; NF Ludwig; MJ Friez; SS Cathey; M Filocamo; B Tappino; N Gunes; B Tuysuz; KL Tylee; KL Brammeier; L Heptinstall; Esmeralda Oussoren; Ans van der Ploeg; C Petersen; S Alves; GD Saavedra; IV Schwartz; N Muschol; K Kutsche; S Pohl

doi:10.1002/humu.23748

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

RV Velho, FL Harms, T Danyukova, NF Ludwig, MJ Friez, SS Cathey, M Filocamo, B Tappino, N Gunes, B Tuysuz, KL Tylee, KL Brammeier, L Heptinstall, Esmeralda Oussoren, Ans van der Ploeg, C Petersen, S Alves, GD Saavedra, IV Schwartz, N MuscholK Kutsche, S Pohl

Pediatrics

Research output: Contribution to journal › Article › Academic › peer-review

60 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	842-864
Number of pages	23
Journal	Human Mutation
Volume	40
Issue number	7
DOIs	https://doi.org/10.1002/humu.23748
Publication status	Published - 2019

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EMC MM-01-54-01

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10.1002/humu.23748

http://hdl.handle.net/1765/118892

Cite this

Velho, RV., Harms, FL., Danyukova, T., Ludwig, NF., Friez, MJ., Cathey, SS., Filocamo, M., Tappino, B., Gunes, N., Tuysuz, B., Tylee, KL., Brammeier, KL., Heptinstall, L., Oussoren, E., van der Ploeg, A., Petersen, C., Alves, S., Saavedra, GD., Schwartz, IV., ... Pohl, S. (2019). The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. Human Mutation, 40(7), 842-864. https://doi.org/10.1002/humu.23748

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author = "RV Velho and FL Harms and T Danyukova and NF Ludwig and MJ Friez and SS Cathey and M Filocamo and B Tappino and N Gunes and B Tuysuz and KL Tylee and KL Brammeier and L Heptinstall and Esmeralda Oussoren and \{van der Ploeg\}, Ans and C Petersen and S Alves and GD Saavedra and IV Schwartz and N Muschol and K Kutsche and S Pohl",

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Velho, RV, Harms, FL, Danyukova, T, Ludwig, NF, Friez, MJ, Cathey, SS, Filocamo, M, Tappino, B, Gunes, N, Tuysuz, B, Tylee, KL, Brammeier, KL, Heptinstall, L, Oussoren, E , van der Ploeg, A, Petersen, C, Alves, S, Saavedra, GD, Schwartz, IV, Muschol, N, Kutsche, K & Pohl, S 2019, 'The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations', Human Mutation, vol. 40, no. 7, pp. 842-864. https://doi.org/10.1002/humu.23748

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T1 - The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

AU - Velho, RV

AU - Harms, FL

AU - Danyukova, T

AU - Ludwig, NF

AU - Friez, MJ

AU - Cathey, SS

AU - Filocamo, M

AU - Tappino, B

AU - Gunes, N

AU - Tuysuz, B

AU - Tylee, KL

AU - Brammeier, KL

AU - Heptinstall, L

AU - Oussoren, Esmeralda

AU - van der Ploeg, Ans

AU - Petersen, C

AU - Alves, S

AU - Saavedra, GD

AU - Schwartz, IV

AU - Muschol, N

AU - Kutsche, K

AU - Pohl, S

PY - 2019

Y1 - 2019

U2 - 10.1002/humu.23748

DO - 10.1002/humu.23748

M3 - Article

SN - 1059-7794

VL - 40

SP - 842

EP - 864

JO - Human Mutation

JF - Human Mutation

IS - 7

ER -