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

J M van de Kamp; O T Betsalel; S Mercimek-Mahmutoglu; L Abulhoul; S Grünewald; I Anselm; H Azzouz; D Bratkovic; A de Brouwer; B Hamel; T Kleefstra; H Yntema; J Campistol; M A Vilaseca; D Cheillan; M D’Hooghe; L Diogo; P Garcia; C Valongo; M Fonseca; S Frints; B Wilcken; S von der Haar; H E Meijers-Heijboer; F Hofstede; D Johnson; S G Kant; L Lion-Francois; G Pitelet; N Longo; J A Maat-Kievit; J P Monteiro; A Munnich; A C Muntau; M C Nassogne; H Osaka; K Ounap; J M Pinard; S Quijano-Roy; I Poggenburg; N Poplawski; O Abdul-Rahman; A Ribes; A Arias; J Yaplito-Lee; A Schulze; C E Schwartz; S Schwenger; G Soares; Y Sznajer; V Valayannopoulos; H Van Esch; S Waltz; M M C Wamelink; P J W Pouwels; A Errami; M S van der Knaap; C Jakobs; G M Mancini; G S Salomons

doi:10.1136/jmedgenet-2013-101658

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Original article

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

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	Abstract	Full	Pdf
May 2013	445	97	139
Jun 2013	810	45	83
Jul 2013	461	47	48
Aug 2013	198	33	34
Sep 2013	156	36	33
Oct 2013	155	41	31
Nov 2013	115	37	33
Dec 2013	77	15	14
Jan 2014	78	30	17
Feb 2014	85	26	21
Mar 2014	71	30	20
Apr 2014	74	21	19
May 2014	70	20	19
Jun 2014	53	17	14
Jul 2014	72	18	14
Aug 2014	58	13	17
Sep 2014	43	9	15
Oct 2014	73	10	13
Nov 2014	37	10	9
Dec 2014	35	12	9
Jan 2015	42	16	12
Feb 2015	51	19	21
Mar 2015	50	17	19
Apr 2015	57	27	20
May 2015	57	16	19
Jun 2015	24	13	12
Jul 2015	33	13	12
Aug 2015	32	13	10
Sep 2015	38	14	12
Oct 2015	29	6	10
Nov 2015	42	11	15
Dec 2015	34	10	9
Jan 2016	41	15	7
Feb 2016	32	19	8
Mar 2016	28	5	6
Apr 2016	31	15	16
May 2016	30	19	16
Jun 2016	38	13	12
Jul 2016	30	18	11
Aug 2016	35	8	6
Sep 2016	48	11	15
Oct 2016	38	12	9
Nov 2016	49	19	10
Dec 2016	30	18	16
Jan 2017	33	19	11
Feb 2017	42	9	10
Mar 2017	44	12	9
Apr 2017	42	21	17
May 2017	69	18	7
Jun 2017	53	23	12
Jul 2017	104	9	10
Aug 2017	84	8	5
Sep 2017	116	12	10
Oct 2017	158	22	15
Nov 2017	144	23	11
Dec 2017	92	9	7
Jan 2018	102	20	13
Feb 2018	76	12	10
Mar 2018	91	18	10
Apr 2018	108	18	15
May 2018	147	13	7
Jun 2018	172	16	10
Jul 2018	133	21	10
Aug 2018	130	13	13
Sep 2018	190	16	14
Oct 2018	161	14	18
Nov 2018	181	12	12
Dec 2018	248	10	11
Jan 2019	174	20	11
Feb 2019	174	18	10
Mar 2019	105	17	9
Apr 2019	118	14	5
May 2019	122	23	14
Jun 2019	125	6	7
Jul 2019	125	17	13
Aug 2019	143	14	13
Sep 2019	109	17	17
Oct 2019	154	22	9
Nov 2019	80	14	3
Dec 2019	117	13	6
Jan 2020	189	19	20
Feb 2020	129	15	12
Mar 2020	123	17	12
Apr 2020	115	11	8
May 2020	125	24	12
Jun 2020	93	6	6
Jul 2020	140	12	17
Aug 2020	109	18	13
Sep 2020	112	8	10
Oct 2020	172	17	14
Nov 2020	111	12	11
Dec 2020	96	12	9
Jan 2021	123	12	12
Feb 2021	159	25	16
Mar 2021	163	15	10
Apr 2021	178	14	13
May 2021	75	26	11
Jun 2021	9	6	11
Jul 2021	10	10	8
Aug 2021	11	10	5
Sep 2021	10	10	7
Oct 2021	113	18	13
Nov 2021	176	12	10
Dec 2021	164	6	5
Jan 2022	158	15	8
Feb 2022	230	15	10
Mar 2022	226	10	15
Apr 2022	197	18	15
May 2022	196	18	15
Jun 2022	133	17	15
Jul 2022	143	13	6
Aug 2022	158	18	4
Sep 2022	111	15	12
Oct 2022	192	27	14
Nov 2022	82	10	14
Dec 2022	74	9	5
Jan 2023	181	15	12
Feb 2023	145	15	8
Mar 2023	193	11	7
Apr 2023	135	13	3
May 2023	233	12	9
Jun 2023	153	20	9
Jul 2023	142	14	10
Aug 2023	139	17	13
Sep 2023	72	16	9
Oct 2023	135	17	13
Nov 2023	130	18	15
Dec 2023	199	16	9
Jan 2024	167	39	53
Feb 2024	141	19	10
Mar 2024	119	22	8
Apr 2024	158	8	6
May 2024	177	25	10
Jun 2024	84	8	6
Jul 2024	137	15	8
Aug 2024	131	13	6
Sep 2024	137	19	5
Total	16064	2349	1916

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