المؤلفون: Stefan A. Kolb, Eugen Mengel, Christian J. Hendriksz, Juan V. Torres, Mercedes Pineda, Mark Walterfang

المصدر: Molecular genetics and metabolism. 120(3)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Disease, Biochemistry, Discriminatory power, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, medicine, Genetics, Prevalence, Cluster Analysis, Humans, In patient, Age of Onset, Child, Molecular Biology, Niemann–Pick disease, type C, business.industry, Mental Disorders, Disease progression, Age Factors, Infant, Newborn, Infant, Niemann-Pick Disease, Type C, Middle Aged, medicine.disease, Hypotonia, Viscera, 030104 developmental biology, Child, Preschool, Cohort, Developmental Milestone, Splenomegaly, Disease Progression, Female, medicine.symptom, Nervous System Diseases, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::379a1fb833cff2c296589cb2fd342bb2Test
https://pubmed.ncbi.nlm.nih.gov/27993458Test

المؤلفون: L. Martín Fumero, M.J. Coll, María Socorro Pérez-Poyato, O. Blanco de la Barca, L. Ruiz Portal, R. Domingo, J. Macías-Vidal, Maria del Mar O’Callaghan, A. Verdú Pérez, M.T. García Silva, Mercedes Pineda, M. A. Vilaseca, Miguel Pocovi, T. Temudo, S. Roldán, J.J. Garcia Peñas, Ana Maria Coimbra Gaspar

المصدر: Molecular Genetics and Metabolism. 99:358-366

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Endocrinology, Diabetes and Metabolism, Disease, Biochemistry, Asymptomatic, Cognition, Endocrinology, Internal medicine, Miglustat, Genetics, medicine, Humans, Child, Adverse effect, Molecular Biology, Niemann–Pick disease, type C, business.industry, Age Factors, Niemann-Pick Disease, Type C, medicine.disease, Surgery, Diarrhea, Tolerability, Child, Preschool, Female, Nervous System Diseases, medicine.symptom, Niemann–Pick disease, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf8e175df0f09c3684b655f1863da962Test
https://doi.org/10.1016/j.ymgme.2009.11.007Test

المؤلفون: Thorsten Marquardt, Mark Walterfang, G.C. Korenke, Wuh-Liang Hwu, Ruben Giorgino, Marc C. Patterson, C. Luzy, Mercedes Pineda, James E. Wraith, Eugen Mengel, Bruno Bembi, Marianne Rohrbach, Frédéric Sedel

المساهمون: University of Zurich, Pineda, M

المصدر: Molecular Genetics and Metabolism. 98:243-249

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, 1-Deoxynojirimycin, 1303 Biochemistry, Adolescent, Endocrinology, Diabetes and Metabolism, 610 Medicine & health, Disease, Biochemistry, Cohort Studies, Endocrinology, 1311 Genetics, Miglustat, 1312 Molecular Biology, Genetics, Humans, Medicine, Enzyme Inhibitors, Child, Molecular Biology, Retrospective Studies, Niemann–Pick disease, type C, business.industry, Niemann-Pick Disease, Type C, Retrospective cohort study, medicine.disease, 1310 Endocrinology, Clinical trial, 2712 Endocrinology, Diabetes and Metabolism, Treatment Outcome, 10036 Medical Clinic, Cohort, Female, business, Niemann–Pick disease, Cohort study, medicine.drug

وصف الملف: 27300_V.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a04f0f2a2465ce79b7e76df1d7c7856dTest
https://doi.org/10.1016/j.ymgme.2009.07.003Test

المؤلفون: Sofia T. Duarte, Rafael Artuch, Angeles Garcia-Cazorla, Ana G. Pérez, E. Fernández-Álvarez, Mercedes Serrano, Mercedes Pineda, Aida Ormazabal, Zuhal Yapici, P. De Castro, Roser Pons, Carlos Ortez, R. Domingo-Jiménez

المساهمون: Repositório da Universidade de Lisboa

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
MOLECULAR GENETICS AND METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Gene Expression, HDE NEU PED, Biochemistry, Levodopa, chemistry.chemical_compound, Endocrinology, Dopaminergic receptor type 2, Neurotransmitter, Child, Tirosina 3-Mono-Oxigenase, Dopaminergic, Vesicular transport protein, Cerebrospinal fluid, Phenotype, Dystonic Disorders, Child, Preschool, Tyrosine hydroxylase deficiency, Female, Doença de Parkinson, Adult, medicine.medical_specialty, Vesicular Monoamine Transport Proteins, Adolescent, Tyrosine 3-Monooxygenase, Neurônios Dopaminérgicos, Criança, Biology, Synaptic proteins, Young Adult, Internal medicine, Dopamine receptor D2, Genetics, medicine, Humans, Molecular Biology, Dopamine transporter, Dopamine Plasma Membrane Transport Proteins, Tyrosine hydroxylase, Infantile parkinsonism, Receptors, Dopamine D2, Líquido Cefalorraquidiano, Infant, Newborn, Vesicular monoamine transporter, chemistry, biology.protein, Membranas Sinápticas, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::911ab0ad8389aed81aff65fcbff25e07Test
https://pubmed.ncbi.nlm.nih.gov/25468651Test

المؤلفون: Anna López-Sala, Antonia Ribes, M. A. Vilaseca, L. Ozaez, Jaime Campistol, Angela Arias, M. Lluch, Angela Sempere, Carmen Fons, Rafael Artuch, J. Garcia-Villoria, A. Mas, Mercedes Pineda, P Póo

المصدر: Molecular genetics and metabolism. 99(3)

مصطلحات موضوعية: medicine.medical_specialty, Magnetic Resonance Spectroscopy, Endocrinology, Diabetes and Metabolism, Creatine, Blood–brain barrier, Biochemistry, Cell Line, Creatine ethyl ester, chemistry.chemical_compound, Endocrinology, In vivo, Internal medicine, Genetics, medicine, Humans, Fibroblast, Molecular Biology, Brain, Membrane Transport Proteins, Fibroblasts, Guanidinoacetate N-methyltransferase, medicine.anatomical_structure, Treatment Outcome, chemistry, Mental Retardation, X-Linked, Creatine Monohydrate, Arginine:glycine amidinotransferase, hormones, hormone substitutes, and hormone antagonists

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0800b885777f93ec6dbb3c3b513b4f61Test
https://pubmed.ncbi.nlm.nih.gov/19955008Test

المؤلفون: Antoni L. Andreu, Jose Luis Capablo, Francesc Villarroya, Pere Domingo, Maya R. Vilà, Jordi P Guallar, Ester López-Gallardo, Mercedes Pineda, Julio Montoya, Josep Gamez, Joan Carles Domingo, Marta Giralt, Abelardo Solano

المصدر: Molecular genetics and metabolism. 89(3)

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Lipomatosis, Biology, Gene mutation, Biochemistry, DNA, Mitochondrial, chemistry.chemical_compound, Endocrinology, Adipocyte, Gene expression, Genes, Regulator, Genetics, medicine, Humans, Point Mutation, RNA, Messenger, Molecular Biology, Gene, Regulator gene, Adipogenesis, Point mutation, Middle Aged, medicine.disease, Molecular biology, Gene Expression Regulation, Neoplastic, chemistry, RNA, Transfer, Lys, Female, Lipoma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bb19c1991426ebd8a9b7f04149a516fTest
https://pubmed.ncbi.nlm.nih.gov/16603396Test

المؤلفون: Eugen Mengel, Mercedes Pineda, B. Schwierin, Ed Wraith, Marc C. Patterson, Ruben Giorgino, Frits A. Wijburg, Audrey Muller, Marie T. Vanier, M. Silkey

المصدر: Molecular Genetics and Metabolism. 102:S34

مصطلحات موضوعية: medicine.medical_specialty, Niemann–Pick disease, type C, business.industry, Endocrinology, Diabetes and Metabolism, Baseline data, medicine.disease, Biochemistry, Endocrinology, Disease registry, Internal medicine, Genetics, medicine, business, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0dfff2c0dbb8d67adb70d724f73aece1Test
https://doi.org/10.1016/j.ymgme.2010.11.115Test

المؤلفون: Christine Remy, Josef Priller, David J. Balding, Mercedes Pineda, David Edmund Johannes Linden, Audrey Muller, Peter Bauer, Harbajan Chadha-Boreham, Frédéric Sedel, Hans H. Klünemann, Marc C. Patterson, Ed Wraith

المصدر: Molecular Genetics and Metabolism. 102:S34

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Niemann–Pick disease, type C, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Biochemistry, Endocrinology, Genetics, medicine, Observational study, business, Molecular Biology, Screening study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4d19bc412d6bd7c47b4e0968607eec9aTest
https://doi.org/10.1016/j.ymgme.2010.11.114Test