Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. (Q48259029)

10 February 2018

title

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. (English)

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10 February 2018

congenital muscular dystrophy

main subject

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6

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Anna-Elina Lehesjoki

8

object named as

Anna-Elina Lehesjoki

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12

Haluk Topaloglu

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Wenli Zhang

1

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Jiri Vajsar

2

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Pinjiang Cao

3

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Galen Breningstall

4

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Charlotta Diesen

5

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Ralph Herrmann

7

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Alice Steinbrecher

9

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Beril Talim

10

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Tatsushi Toda

11

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Thomas Voit

13

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Harry Schachter

14

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publication date

1 July 2003

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10 February 2018

published in

Clinical Biochemistry

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volume

36

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10 February 2018

page(s)

339-344

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issue

5

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10 February 2018

The complexities of dystroglycan

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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

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7 January 2021

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Ophthalmological findings in a new syndrome with muscle, eye and brain involvement

7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0009-9120(03)00036-5

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10 February 2018

PubMed ID

12849864

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10 February 2018