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Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

Orphanet journal of rare diseases, 2020-05, Vol.15 (1), p.114-114, Article 114

2020

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Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

Journal of multidisciplinary healthcare, 2022-01, Vol.15, p.553-566

2022

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Implementación de programas de transición de la adolescencia a la edad adulta

Anales de pediatría (Barcelona, Spain : 2003), 2023-12, Vol.99 (6), p.422-430

2023

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Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up

Journal of clinical medicine, 2021-04, Vol.10 (8), p.1664

2021

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Intrathecal cyclodextrin in the treatment of Niemann-Pick disease type C

European journal of hospital pharmacy. Science and practice, 2017-05, Vol.24 (3), p.185-188

2017

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Seguimiento de pacientes con síndrome de Hunter: el registro HOS (Hunter Outcome Survey)

Revista de neurologiá, 2007, Vol.44 (S01), p.S013

del Toro Riera, Mireia

2007

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61th Congress of the SEFH. Top five clinical cases

Farmacia hospitalaria, 2017-05, Vol.41 (3), p.435-456

2017

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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.3-3, Article 3

2020

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Experiencia mundial en el tratamiento de la mucopolisacaridosis tipo II: el registro HOS (Hunter Outcome Survey)

Revista de neurologiá, 2008, Vol.47 (S02), p.S3

del Toro Riera, Mireia

2008

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Research activity and capability in the European reference network MetabERN

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.119-119, Article 119

2019

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Bone involvement outcomes in Spanish patients with Gaucher disease type 1 treated with eliglustat: Sub-study International Collaborative Gaucher Group (ICGG)

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107786, Article 107786

2024

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New severity scale on Fabry disease: Fabry stabilization score (FASTEX) score

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S28-S29

2022

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Panencefalitis esclerosante subaguda: tratamiento combinado con interferón alfa y ribavirina intraventricular

Revista de neurologiá, 2006, Vol.42 (5), p.277

2006

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Diagnostic strategies for hydrocephalus detection in MPS patients

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107811, Article 107811

2024

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A phase 2 study assessing TAK-611150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (SHP611–201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD)

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107744, Article 107744

2024

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Implementation of programmes for the transition of adolescents to adult care

Anales de Pediatría, 2023-12, Vol.99 (6), p.422-430

2023

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Implementation of programmes for the transition of adolescents to adult care

Anales de Pediatría, 2023-12, Vol.99 (6), p.422-430

2023

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Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital

Blood cells, molecules, & diseases, 2023-01, Vol.98, p.102704-102704, Article 102704

2023

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Severe infantile acute encephalopathy and COG4 mutation: CDG IIJ

European journal of paediatric neurology, 2017-06, Vol.21, p.e140-e140

2017

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Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases

Molecular genetics and metabolism reports, 2023-06, Vol.35, p.100962-100962, Article 100962

2023

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Hipertensión intracraneal asociada a trombosis de senos venosos cerebrales y mastoiditis. A propósito de dos casos pediátricos

Revista de neurologiá, 2009-11, Vol.49 (10), p.529

2009

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Atrofia cerebelosa secundaria a cerebelitis aguda por Mycoplasma pneumoniae

Revista de neurologiá, 2006, Vol.42 (8), p.466

2006

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Clinical variability of polymicrogiria: report of 35 new cases and review of the literature

Revista de neurologiá, 2012-09, Vol.55 (6), p.321-329

2012

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Miocardiopatía en niños con errores innatos del metabolismo: descripción de 12 casos

Medicina clínica, 2011, Vol.137 (13), p.596-599

2011

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Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases

Medicina clinica, 2011-11, Vol.137 (13), p.596

2011

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Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

Implementación de programas de transición de la adolescencia a la edad adulta

Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up

Intrathecal cyclodextrin in the treatment of Niemann-Pick disease type C

Seguimiento de pacientes con síndrome de Hunter: el registro HOS (Hunter Outcome Survey)

61th Congress of the SEFH. Top five clinical cases

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Experiencia mundial en el tratamiento de la mucopolisacaridosis tipo II: el registro HOS (Hunter Outcome Survey)

Research activity and capability in the European reference network MetabERN

Bone involvement outcomes in Spanish patients with Gaucher disease type 1 treated with eliglustat: Sub-study International Collaborative Gaucher Group (ICGG)

New severity scale on Fabry disease: Fabry stabilization score (FASTEX) score

Panencefalitis esclerosante subaguda: tratamiento combinado con interferón alfa y ribavirina intraventricular

Diagnostic strategies for hydrocephalus detection in MPS patients

A phase 2 study assessing TAK-611150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (SHP611–201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD)

Implementation of programmes for the transition of adolescents to adult care

Implementation of programmes for the transition of adolescents to adult care

Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital

Severe infantile acute encephalopathy and COG4 mutation: CDG IIJ

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases

Hipertensión intracraneal asociada a trombosis de senos venosos cerebrales y mastoiditis. A propósito de dos casos pediátricos

Atrofia cerebelosa secundaria a cerebelitis aguda por Mycoplasma pneumoniae

Clinical variability of polymicrogiria: report of 35 new cases and review of the literature

Miocardiopatía en niños con errores innatos del metabolismo: descripción de 12 casos

Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases

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