Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

M. A. Kroos; M. Van Der Kraan; O. P. Van Diggelen; W. J. Kleijer; A. J.J. Reuser; M. J. Van Den Boogaard; M. G.E.M. Ausems; H. K.Ploos Van Amstel; L. Poenaru; M. Nicolino; R. Wevers

doi:10.1136/jmg.32.10.836-a

Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

M. A. Kroos^*
, M. Van Der Kraan
, O. P. Van Diggelen
, W. J. Kleijer
, A. J.J. Reuser
, M. J. Van Den Boogaard
, M. G.E.M. Ausems
, H. K.Ploos Van Amstel
, L. Poenaru
, M. Nicolino
, R. Wevers

^*Corresponding author for this work

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

74 Citations (Scopus)

Original language	English
Pages (from-to)	836-837
Number of pages	2
Journal	Journal of Medical Genetics
Volume	32
Issue number	10
DOIs	https://doi.org/10.1136/jmg.32.10.836-a
Publication status	Published - 1 Jan 1995

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Kroos, M. A., Van Der Kraan, M., Van Diggelen, O. P., Kleijer, W. J., Reuser, A. J. J., Van Den Boogaard, M. J., Ausems, M. G. E. M., Van Amstel, H. K. P., Poenaru, L., Nicolino, M., & Wevers, R. (1995). Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. Journal of Medical Genetics, 32(10), 836-837. https://doi.org/10.1136/jmg.32.10.836-a

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title = "Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients",

author = "Kroos, \{M. A.\} and \{Van Der Kraan\}, M. and \{Van Diggelen\}, \{O. P.\} and Kleijer, \{W. J.\} and Reuser, \{A. J.J.\} and \{Van Den Boogaard\}, \{M. J.\} and Ausems, \{M. G.E.M.\} and \{Van Amstel\}, \{H. K.Ploos\} and L. Poenaru and M. Nicolino and R. Wevers",

year = "1995",

month = jan,

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doi = "10.1136/jmg.32.10.836-a",

language = "English",

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Kroos, MA, Van Der Kraan, M, Van Diggelen, OP, Kleijer, WJ, Reuser, AJJ, Van Den Boogaard, MJ , Ausems, MGEM , Van Amstel, HKP, Poenaru, L, Nicolino, M & Wevers, R 1995, 'Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients', Journal of Medical Genetics, vol. 32, no. 10, pp. 836-837. https://doi.org/10.1136/jmg.32.10.836-a

TY - JOUR

T1 - Glycogen storage disease type II

T2 - Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

AU - Kroos, M. A.

AU - Van Der Kraan, M.

AU - Van Diggelen, O. P.

AU - Kleijer, W. J.

AU - Reuser, A. J.J.

AU - Van Den Boogaard, M. J.

AU - Ausems, M. G.E.M.

AU - Van Amstel, H. K.Ploos

AU - Poenaru, L.

AU - Nicolino, M.

AU - Wevers, R.

PY - 1995/1/1

Y1 - 1995/1/1

UR - https://www.scopus.com/pages/publications/0029384345

U2 - 10.1136/jmg.32.10.836-a

DO - 10.1136/jmg.32.10.836-a

M3 - Letter

C2 - 8558570

AN - SCOPUS:0029384345

SN - 0022-2593

VL - 32

SP - 836

EP - 837

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 10

ER -

Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

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