M. Pineda

Hospital Sant Joan de Déu Barcelona — Spain

Medicine · Health Sciences

28h-index2.6kcitations75works5.02yr avg
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Research Topics

Lysosomal Storage Disorders Research(19), Metabolism and Genetic Disorders(11), Genetics and Neurodevelopmental Disorders(11), Family and Disability Support Research(10), Mitochondrial Function and Pathology(9)

Publications74 total

"Treatment for Anxiety and Future Treatments in Rett Syndrome"
Biomedical Journal of Scientific & Technical Research·2024· 1 citedOpen Access
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
European Journal of Human Genetics·2024· 9 citedOpen Access
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Orphanet Journal of Rare Diseases·2022· 36 citedOpen Access
Cognitive stimulation has potential for brain activation in individuals with Rett syndrome
Journal of Intellectual Disability Research·2021· 14 citedOpen Access
Clinical disease characteristics of patients with Niemann-Pick Disease Type C – findings from the International Niemann-Pick Disease Registry (INPDR)
2021· 5 citedOpen Access
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>
The Journal of Clinical Endocrinology & Metabolism·2020· 42 citedOpen Access
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review
Orphanet Journal of Rare Diseases·2019· 7 citedOpen Access
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
European Journal of Paediatric Neurology·2019· 31 citedOpen Access
Consensus clinical management guidelines for Niemann-Pick disease type C
Orphanet Journal of Rare Diseases·2018· 275 citedOpen Access
PO-0369 A Niemann-pick Disease Type C (np-c) Suspicion Index Tool To Aid Diagnosis In Paediatric Patients
Archives of Disease in Childhood·2014Open Access
Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes
Medicina Clínica·2014· 3 citedOpen Access
O42 – 1909 FOXG1 gene: phenotype–genotype relation in Spanish patients
European Journal of Paediatric Neurology·2013
Niemann‐Pick type C Suspicion Index tool: analyses by age and association of manifestations
Journal of Inherited Metabolic Disease·2013· 60 citedOpen Access
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study
Human Molecular Genetics·2013· 82 citedOpen Access
PERCEPCIÓN DE LA CULTURA DE LA SEGURIDAD DE LOS PACIENTES POR PERSONAL DE ENFERMERÍA NURSING PERCEPTION OF PATIENT SAFETY CULTURE
2013
Late Infantile Neuronal Ceroid Lipofuscinosis
Journal of Child Neurology·2012· 30 citedOpen Access
Safety of expanded therapeutic range of valproic acid
European Journal of Hospital Pharmacy·2012· 2 cited
The impact of gastrointestinal tract resection in oral drug absorption
European Journal of Hospital Pharmacy·2012
Benign Afebrile Convulsions in the Course of Mild Acute Gastroenteritis
Pediatric Emergency Care·2011· 21 cited
1FC3.4 Mutation load of m.3243A&gt;G in tRNALeu in different samples in a family affected of MELAS
European Journal of Paediatric Neurology·2011
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Frequent Co-authors

Rafael Artuch(13), Marta Vilaseca(8), Isidró Ferrer(7), Marc C. Patterson(5), Marina Vilaseca(5), Bruno Bembi(4), A. Aracil(4), Àngels García‐Cazorla(4), Josep M. Campistol(4), Tarekegn Geberhiwot(3), Andrea Dardis(3), Marie T. Vanier(3), Mark Walterfang(3), Shaun Bolton(3), Miriam Stampfer(3), Jackie Imrie(3), Paul Gissen(3), Ellen Crushell(3), María José Coll(3), Simon Jones(3)