(Q50711007)

18 March 2018

title

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency (English)

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author

Luísa Diogo

17

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author name string

J M van de Kamp

1

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O T Betsalel

2

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S Mercimek-Mahmutoglu

3

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L Abulhoul

4

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S Grünewald

5

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I Anselm

6

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H Azzouz

7

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D Bratkovic

8

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A de Brouwer

9

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B Hamel

10

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T Kleefstra

11

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H Yntema

12

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J Campistol

13

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M A Vilaseca

14

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D Cheillan

15

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M D'Hooghe

16

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P Garcia

18

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C Valongo

19

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M Fonseca

20

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S Frints

21

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B Wilcken

22

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S von der Haar

23

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H E Meijers-Heijboer

24

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F Hofstede

25

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D Johnson

26

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S G Kant

27

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L Lion-Francois

28

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G Pitelet

29

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N Longo

30

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J A Maat-Kievit

31

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J P Monteiro

32

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A Munnich

33

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A C Muntau

34

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M C Nassogne

35

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H Osaka

36

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K Ounap

37

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J M Pinard

38

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S Quijano-Roy

39

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I Poggenburg

40

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N Poplawski

41

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O Abdul-Rahman

42

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A Ribes

43

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A Arias

44

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J Yaplito-Lee

45

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A Schulze

46

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C E Schwartz

47

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S Schwenger

48

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G Soares

49

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Y Sznajer

50

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V Valayannopoulos

51

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H Van Esch

52

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S Waltz

53

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M M C Wamelink

54

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P J W Pouwels

55

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A Errami

56

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M S van der Knaap

57

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C Jakobs

58

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G M Mancini

59

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G S Salomons

60

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language of work or name

English

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publication date

3 May 2013

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18 March 2018

Journal of Medical Genetics

published in

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volume

50

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issue

7

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18 March 2018

page(s)

463-472

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18 March 2018

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

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X-linked creatine transporter deficiency presenting as a mitochondrial disorder

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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10.1136/JMEDGENET-2013-101658

21 January 2018

Identifiers

DOI

1 reference

18 March 2018

1 reference

18 March 2018