ISSN: 0025-7753

Launched in 1943, Medicina Clínica is a fortnightly journal aimed at the promotion of clinical research and practice among internal medicine and other specialists. The key characteristics of Medicina Clínica are the scientific and methodological rigor of its manuscripts, the topicality of its contents, and, especially, its practical focus with highly useful information for clinical practice. Medicina Clínica is predominantly interested in publishing original research manuscripts, which are rigorously selected according to their quality, originality, and interest, and also in continued medical education-oriented manuscripts, which are commissioned by the journal to relevant authors (Editorials, Reviews, and Diagnosis and Treatment). These manuscripts contain updated topics with a major clinical or conceptual relevance in modern medicine.
The journal adheres to the standards of academic research publications in all aspects including peer-review and ethical principles.
Medicina Clínica is included in the General and Internal Medicine category of Thomson Reuters.

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Impact factor

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Impact factor 2023

2.6

Citescore

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Citescore 2023

3.1

SJR

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SJR 2023

0.371

SNIP

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SNIP 2023

0.511

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Clinical report

Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype

Evaluación clínica detallada de una familia española con enfermedad de Anderson-Fabry, nueva mutación en GLA y fenotipo cardiaco grave

Irene San Román-Monserrata,

Corresponding author

irene.sanroman@gmail.com

Corresponding author.

, Victoria Moreno-Floresb, David López-Cuencab, Elena Rodríguez-González-Herreroc, Encarna Guillén-Navarrod,e,f, Beatriz Rodríguez-González-Herrerog, Marisol Alegría-Fernándezh, Gabriela Poza-Cisnerosa, Juan A. Piñero-Fernándezi, Javier Sornichero-Martínezc, Juan R. Gimeno-Blanesb,j

a Servicio de Medicina Interna, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain

b Servicio de Cardiología, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain

c Servicio de Oftalmología, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain

d Unidad de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain

e Cátedra de Genética Médica, Universidad Católica San Antonio de Murcia, Spain

f Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain

g Servicio de Otorrinolaringología, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain

h Servicio de Nefrología, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain

i Sección de Nefrología Pediátrica, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain

j Facultad de Medicina, Universidad de Murcia, Spain

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Article information

ISSN: 00257753
Original language: English

DOI:10.1016/j.medcli.2014.01.032

The statistics are updated each day

Year/Month	Html	Pdf	Total

2023 March	1	4	5
2017 October	10	3	13
2017 September	14	5	19
2017 August	17	14	31
2017 July	15	4	19
2017 June	39	6	45
2017 May	18	10	28
2017 April	12	3	15
2017 March	9	40	49
2017 February	20	14	34
2017 January	23	4	27
2016 December	23	10	33
2016 November	37	12	49
2016 October	48	5	53
2016 September	64	6	70
2016 August	29	5	34
2016 July	17	2	19
2016 June	38	14	52
2016 May	6	5	11
2014 December	0	1	1
2014 July	1	0	1
2014 June	1	1	2
2014 May	1	5	6