Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C | Revista Portuguesa de Cardiologia (English edition)

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Case report

Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C

Doença de Fabry com padrão apical de hipertrofia ventricular esquerda numa doente portadora da mutação missense R118C

Francisca Caetano

, Ana Botelho, Paula Mota, Joana Silva, António Leitão Marques

Serviço de Cardiologia, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

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Article information

ISSN: 21742049
Original language: English

DOI:10.1016/j.repce.2013.11.002

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Year/Month	Html	Pdf	Total

2025 9	70	19	89
2025 8	73	33	106
2025 7	75	31	106
2025 6	65	34	99
2025 5	85	29	114
2025 4	95	31	126
2025 3	92	28	120
2025 2	52	24	76
2025 1	55	46	101
2024 12	60	38	98
2024 11	63	43	106
2024 10	48	33	81
2024 9	63	26	89
2024 8	58	30	88
2024 7	44	30	74
2024 6	63	24	87
2024 5	68	24	92
2024 4	54	35	89
2024 3	59	20	79
2024 2	51	25	76
2024 1	45	30	75
2023 12	39	30	69
2023 11	64	39	103
2023 10	57	21	78
2023 9	46	22	68
2023 8	56	12	68
2023 7	54	9	63
2023 6	52	14	66
2023 5	61	29	90
2023 4	51	5	56
2023 3	58	27	85
2023 2	60	30	90
2023 1	37	15	52
2022 12	50	23	73
2022 11	50	23	73
2022 10	57	24	81
2022 9	73	43	116
2022 8	45	36	81
2022 7	54	39	93
2022 6	46	33	79
2022 5	31	37	68
2022 4	57	41	98
2022 3	44	46	90
2022 2	47	36	83
2022 1	93	37	130
2021 12	53	38	91
2021 11	55	28	83
2021 10	57	39	96
2021 9	52	26	78
2021 8	67	36	103
2021 7	49	28	77
2021 6	72	23	95
2021 5	103	38	141
2021 4	99	35	134
2021 3	72	23	95
2021 2	70	22	92
2021 1	81	17	98
2020 12	53	8	61
2020 11	35	12	47
2020 10	48	11	59
2020 9	119	20	139
2020 8	62	15	77
2020 7	71	13	84
2020 6	52	10	62
2020 5	90	4	94
2020 4	49	10	59
2020 3	41	13	54
2020 2	96	48	144
2020 1	56	11	67
2019 12	41	11	52
2019 11	46	6	52
2019 10	52	11	63
2019 9	78	18	96
2019 8	42	7	49
2019 7	40	25	65
2019 6	59	18	77
2019 5	62	15	77
2019 4	30	11	41
2019 3	90	12	102
2019 2	92	8	100
2019 1	61	6	67
2018 12	45	10	55
2018 11	130	8	138
2018 10	287	24	311
2018 9	60	19	79
2018 8	79	9	88
2018 7	33	6	39
2018 6	63	5	68
2018 5	69	7	76
2018 4	57	3	60
2018 3	126	6	132
2018 2	45	2	47
2018 1	78	12	90
2017 12	107	8	115
2017 11	53	13	66
2017 10	33	10	43
2017 9	32	12	44
2017 8	36	16	52
2017 7	25	12	37
2017 6	29	13	42
2017 5	35	26	61
2017 4	24	10	34
2017 3	33	21	54
2017 2	43	4	47
2017 1	30	11	41
2016 12	48	12	60
2016 11	26	6	32
2016 10	30	4	34
2016 9	23	6	29
2016 8	18	2	20
2016 7	25	10	35
2016 6	8	12	20
2016 5	8	10	18
2016 4	22	9	31
2016 3	22	7	29
2016 2	38	20	58
2016 1	35	14	49
2015 12	40	14	54
2015 11	24	10	34
2015 10	44	15	59
2015 9	63	16	79
2015 8	34	4	38
2015 7	37	7	44
2015 6	24	1	25
2015 5	22	8	30
2015 4	23	5	28
2015 3	21	4	25
2015 2	27	6	33
2015 1	14	7	21
2014 12	35	5	40
2014 11	24	5	29
2014 10	24	4	28
2014 9	27	5	32
2014 8	25	8	33
2014 7	33	17	50
2014 6	30	13	43
2014 5	39	14	53

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