Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

S S Cathey; J G Leroy; T Wood; K Eaves; R J Simensen; M Kudo; R E Stevenson; M J Friez

doi:10.1136/jmg.2009.067736

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Original article

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

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	Abstract	Full	Pdf
Jul 2009	174	0	33
Aug 2009	214	0	26
Sep 2009	70	0	24
Oct 2009	108	0	9
Nov 2009	29	0	24
Dec 2009	29	0	15
Jan 2010	189	12	47
Feb 2010	75	19	30
Mar 2010	27	16	17
Apr 2010	23	18	11
May 2010	31	13	15
Jun 2010	28	12	18
Jul 2010	35	9	10
Aug 2010	107	21	13
Sep 2010	175	17	12
Oct 2010	157	36	23
Nov 2010	164	31	7
Dec 2010	99	23	13
Jan 2011	127	18	7
Feb 2011	152	16	7
Mar 2011	154	28	9
Apr 2011	152	15	9
May 2011	141	17	8
Jun 2011	144	24	10
Jul 2011	135	13	9
Aug 2011	88	12	3
Sep 2011	133	13	7
Oct 2011	149	24	10
Nov 2011	159	29	13
Dec 2011	178	29	8
Jan 2012	179	27	4
Feb 2012	142	13	8
Mar 2012	167	30	3
Apr 2012	417	38	1
May 2012	394	28	10
Jun 2012	297	28	9
Jul 2012	187	18	6
Aug 2012	113	49	17
Sep 2012	270	27	6
Oct 2012	186	42	10
Nov 2012	147	52	8
Dec 2012	54	10	11
Jan 2013	70	4	4
Feb 2013	45	8	7
Mar 2013	33	13	11
Apr 2013	48	4	2
May 2013	42	14	15
Jun 2013	21	5	11
Jul 2013	19	8	5
Aug 2013	12	4	5
Sep 2013	12	2	2
Oct 2013	14	2	2
Nov 2013	18	2	2
Dec 2013	9	5	6
Jan 2014	18	4	3
Feb 2014	19	3	4
Mar 2014	33	1	2
Apr 2014	28	7	6
May 2014	33	7	3
Jun 2014	16	4	6
Jul 2014	13	6	7
Aug 2014	12	3	2
Sep 2014	20	8	3
Oct 2014	16	1	2
Nov 2014	12	3	3
Dec 2014	15	3	5
Jan 2015	6	1	1
Feb 2015	23	10	10
Mar 2015	23	7	9
Apr 2015	15	7	4
May 2015	15	2	5
Jun 2015	19	10	6
Jul 2015	11	7	6
Aug 2015	21	6	5
Sep 2015	27	3	2
Oct 2015	16	5	15
Nov 2015	22	2	2
Dec 2015	20	1	2
Jan 2016	22	4	4
Feb 2016	29	3	7
Mar 2016	35	2	4
Apr 2016	37	6	1
May 2016	18	12	10
Jun 2016	48	4	5
Jul 2016	24	5	3
Aug 2016	21	0	4
Sep 2016	29	7	7
Oct 2016	39	3	3
Nov 2016	24	3	6
Dec 2016	18	4	3
Jan 2017	16	6	5
Feb 2017	35	4	6
Mar 2017	31	9	5
Apr 2017	31	3	2
May 2017	56	5	4
Jun 2017	28	1	0
Jul 2017	36	0	1
Aug 2017	59	4	4
Sep 2017	55	3	6
Oct 2017	79	10	3
Nov 2017	83	4	0
Dec 2017	73	4	5
Jan 2018	60	4	1
Feb 2018	68	4	2
Mar 2018	96	14	7
Apr 2018	82	7	2
May 2018	90	5	5
Jun 2018	75	5	5
Jul 2018	54	3	2
Aug 2018	58	12	7
Sep 2018	51	5	3
Oct 2018	102	10	13
Nov 2018	47	6	3
Dec 2018	66	4	1
Jan 2019	65	5	1
Feb 2019	86	3	3
Mar 2019	81	3	0
Apr 2019	63	3	4
May 2019	50	6	2
Jun 2019	69	8	5
Jul 2019	33	5	3
Aug 2019	50	9	6
Sep 2019	47	5	4
Oct 2019	55	9	2
Nov 2019	157	2	0
Dec 2019	129	3	2
Jan 2020	79	6	6
Feb 2020	115	25	14
Mar 2020	69	9	9
Apr 2020	54	2	6
May 2020	60	5	4
Jun 2020	64	5	7
Jul 2020	36	2	2
Aug 2020	38	3	2
Sep 2020	59	5	2
Oct 2020	93	3	3
Nov 2020	110	2	2
Dec 2020	59	3	1
Jan 2021	48	6	3
Feb 2021	52	8	1
Mar 2021	30	2	0
Apr 2021	35	3	5
May 2021	24	3	2
Jun 2021	4	4	3
Jul 2021	3	1	1
Aug 2021	6	3	1
Oct 2021	75	1	1
Nov 2021	60	5	4
Dec 2021	50	2	1
Jan 2022	47	4	1
Feb 2022	74	4	18
Mar 2022	63	4	0
Apr 2022	68	1	1
May 2022	81	5	4
Jun 2022	82	4	2
Jul 2022	57	4	1
Aug 2022	78	4	5
Sep 2022	105	13	6
Oct 2022	60	3	3
Nov 2022	63	3	0
Dec 2022	49	0	0
Jan 2023	77	1	2
Feb 2023	72	4	2
Mar 2023	36	4	2
Apr 2023	56	3	1
May 2023	130	2	1
Jun 2023	54	8	5
Jul 2023	38	1	1
Aug 2023	57	4	2
Sep 2023	153	19	9
Oct 2023	42	5	1
Nov 2023	245	3	3
Dec 2023	65	7	6
Jan 2024	79	3	1
Feb 2024	50	2	3
Mar 2024	95	5	5
Total	12754	1483	1071

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