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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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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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61th Congress of the SEFH. Top five clinical cases

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

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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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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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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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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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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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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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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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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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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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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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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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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Variabilidad clínica de la polimicrogiria: a propósito de 35 nuevos casos y revisión de la bibliografía

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

2012

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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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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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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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Atrofia cerebelosa secundaria a cerebelitis aguda por Mycoplasma pneumoniae

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

2006

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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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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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Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial

Revista de neurologiá, 2004-12, Vol.39 (12), p.1129

2004

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

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

61th Congress of the SEFH. Top five clinical cases

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

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

Implementation of programmes for the transition of adolescents to adult care

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

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

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

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

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

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

Diagnostic strategies for hydrocephalus detection in MPS patients

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

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)

Variabilidad clínica de la polimicrogiria: a propósito de 35 nuevos casos y revisión de la bibliografía

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

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

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

Atrofia cerebelosa secundaria a cerebelitis aguda por Mycoplasma pneumoniae

Research activity and capability in the European reference network MetabERN

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

Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial

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