Null mutations and lethal congenital form of glycogen storage disease type IV

S Assereto; Otto Diggelen; L Diogo; E Morava; D Cassandrini; I Carreira; WP de Boode; J Dilling; P Garcia; M Henriques; O Rebelo; H ter Laak; C Minetti; C Bruno

doi:10.1016/j.bbrc.2007.07.074

Null mutations and lethal congenital form of glycogen storage disease type IV

S Assereto, Otto Diggelen, L Diogo, E Morava, D Cassandrini, I Carreira, WP de Boode, J Dilling, P Garcia, M Henriques, O Rebelo, H ter Laak, C Minetti, C Bruno

Clinical Genetics

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

27 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	445-450
Number of pages	6
Journal	Biochemical & Biophysical Research Communications
Volume	361
Issue number	2
DOIs	https://doi.org/10.1016/j.bbrc.2007.07.074
Publication status	Published - 2007

Research programs

EMC MGC-02-96-01

Access to Document

10.1016/j.bbrc.2007.07.074

http://hdl.handle.net/1765/35198

Cite this

Assereto, S., Diggelen, O., Diogo, L., Morava, E., Cassandrini, D., Carreira, I., de Boode, WP., Dilling, J., Garcia, P., Henriques, M., Rebelo, O., ter Laak, H., Minetti, C., & Bruno, C. (2007). Null mutations and lethal congenital form of glycogen storage disease type IV. Biochemical & Biophysical Research Communications, 361(2), 445-450. https://doi.org/10.1016/j.bbrc.2007.07.074

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title = "Null mutations and lethal congenital form of glycogen storage disease type IV",

author = "S Assereto and Otto Diggelen and L Diogo and E Morava and D Cassandrini and I Carreira and {de Boode}, WP and J Dilling and P Garcia and M Henriques and O Rebelo and {ter Laak}, H and C Minetti and C Bruno",

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Assereto, S, Diggelen, O, Diogo, L, Morava, E, Cassandrini, D, Carreira, I, de Boode, WP, Dilling, J, Garcia, P, Henriques, M, Rebelo, O, ter Laak, H, Minetti, C & Bruno, C 2007, 'Null mutations and lethal congenital form of glycogen storage disease type IV', Biochemical & Biophysical Research Communications, vol. 361, no. 2, pp. 445-450. https://doi.org/10.1016/j.bbrc.2007.07.074

TY - JOUR

T1 - Null mutations and lethal congenital form of glycogen storage disease type IV

AU - Assereto, S

AU - Diggelen, Otto

AU - Diogo, L

AU - Morava, E

AU - Cassandrini, D

AU - Carreira, I

AU - de Boode, WP

AU - Dilling, J

AU - Garcia, P

AU - Henriques, M

AU - Rebelo, O

AU - ter Laak, H

AU - Minetti, C

AU - Bruno, C

PY - 2007

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U2 - 10.1016/j.bbrc.2007.07.074

DO - 10.1016/j.bbrc.2007.07.074

M3 - Article

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SN - 0006-291X

VL - 361

SP - 445

EP - 450

JO - Biochemical & Biophysical Research Communications

JF - Biochemical & Biophysical Research Communications

IS - 2

ER -