المؤلفون: A. L. S. Pessoa, A. M. Martins, E. M. Ribeiro, N. Specola, A. Chiesa, D. Vilela, E. Jurecki, D. Mesojedovas, I. V. D. Schwartz

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-36 (2022)

مصطلحات موضوعية: Neurological disease, Attention deficit hyperactivity disorder, Overweight, Phenylketonuria, LATAM, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/521dc28ce7ba47c8b8c128c3faa5b118

المؤلفون: H. Amartino, R. Ceci, F. Masllorens, A. Gal, C. Arberas, L. Bay, R. Ilari, J. Dipierri, N. Specola, A. Cabrera, P. Rozenfeld

المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 401-406 (2014)

مصطلحات موضوعية: Genetic testing, Genotype–phenotype correlation, Hunter syndrome, Lysosomal storage disorder, Mucopolysaccharidosis type II, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426914000573; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/5b4c38efcf7043079f9576d17ac2e6ff

المؤلفون: Carmen Mendes, André Luiz Santos Pessoa, Luis A Lizcano, Charles Marques Lourenço, Nury Mancilla, Francisca Mallorens, Mónica Troncoso, Carolina Rivera-Nieto, Nora Atanacio, Norberto Guelbert, N. Specola, Emily Gardner, Diane Vergara, Sara E. Mole, Lina Tavera, Carolina Fischinger Moura de Souza

المصدر: Journal of Paediatrics and Child Health

مصطلحات موضوعية: Batten disease, Pediatrics, medicine.medical_specialty, seizure, TPP1 deficiency, Late onset, Disease, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, 030225 pediatrics, Humans, Medicine, 030212 general & internal medicine, late onset, Child, Clinical phenotype, Aged, Retrospective Studies, Tripeptidyl-Peptidase 1, business.industry, Medical record, Original Articles, medicine.disease, Neuronal Ceroid Lipofuscinosis Type 2, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Original Article, mutation, Differential diagnosis, business, Brazil

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f13b68fc3560a574c408c17cf4d500
https://doi.org/10.1111/jpc.15250

المؤلفون: Annemiek M.J. van Wegberg, Friedrich Trefz, Maria Gizewska, Sibtain Ahmed, Layachi Chabraoui, Maha S. Zaki, François Maillot, Francjan J. van Spronsen, K. Ahring, F. Al Mutairi, J.B. Arnoux, D. Ballhausen, J. Baruteau, L. Bernstein, S. Bijarnia-Mahay, F. Boemer, A. Bordugo, L. Brodosi, S. Brooks, H.B. Chew, K. Chyz, M. Coker, C. Collingwood, V. Cornejo, M.L. Couce, A. Cozens, S. Dahri, A.M. Das, C. de Laet, J. de las Heras Montero, A. de Vreugd, F.G. Debray, M. Dercksen, M. Descartes, L. Diogo, E. Drogari, H. Eiroa, F.T. Eminoglu, G.M. Enns, F. Eyskens, F. Feillet, S. Ford, L. Franzson, P. Freisinger, P. Garcia, O. Grafakou, G. Gramer, S. Gray, U. Groselj, S.C. Grünert, D. Haas, B. Handoom, T.B. Harte, C. Hendriksz, R.S. Heredia, J. Hertecant, T. Hoi-Yee Wu, A. Inwood, S.S. Jamuar, P. Jesina, J.J. Jonsson, A. Jovanovic, I. Kern, S. Kilavuz, I. Knerr, D. Kor, D. Korycinska-Chaaban, M. Kreile, B. Kumru, B. Lanpher, R. Lapatto, C. Lavigne, E. Leao-Teles, V. Leuzzi, N. Longo, A. Lopez-Uriarte, C.M.A. Lubout, A. MacDonald, E.M. Megdad, J. Mitchell, F. Mochel, P.J. Moreno-Lozano, A. Morris, C.F. Moura de Souza, T. Munoz, P.I. Nevalainen, M. Oscarson, K. Õunap, S. Paci, G.M. Pastores, P.L. Pearl, F.B. Piazzon, J. Pitt, G. Poon, F. Porta, N. Presner, A.A. Rabaty, K. Reinson, P. Reismann, T. Rink, J.C. Rocha, E. Rodrigues, A.G. Saini, A. Sanchez-Valle, J. Sander, P. Sarkhail, I.V.D. Schwartz, R. Sharma, B. Sheng, K. Siriwardena, S. Sirrs, D.R. Sjarif, N. Sondheimer, R. Sparkes, N. Specola, K.M. Stepien, I. Szatmari, M. Tchan, T. Tkemaladze, C. Tran, M.G. Valle, M. Vela-Amieva, M.L. Verdaguer, S.A. Vergano, P. Vermeersch, R. Vulturar, M.A.E.M. Wagenmakers, N. Weinhold, A.B. Williams, W.G. Wilson, D. Zafeiriou, H. Zhang, A. Ziagaki, J. Zolkowska

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Journal of Pediatrics, 239, 231-234.e2
Journal of Pediatrics, 239, pp. 231-234.e2
Journal of Pediatrics, 239, 231-+. MOSBY-ELSEVIER

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Delayed Diagnosis, Adolescent, Refugee, media_common.quotation_subject, Immigration, phenylketonuria, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], late diagnosis, Emigrants and Immigrants, CHILDREN, immigrant, Global Health, Health Services Accessibility, Young Adult, NBS, Neonatal Screening, Phenylketonurias, MANAGEMENT, Medicine, Humans, LATE-DIAGNOSED PHENYLKETONURIA, refugee, Child, media_common, Newborn screening, business.industry, Health Policy, International survey, Infant, Newborn, Infant, nutritional and metabolic diseases, food and beverages, ADULTS, Late diagnosis, Family medicine, Child, Preschool, Health Care Surveys, PKU, Pediatrics, Perinatology and Child Health, embryonic structures, Female, business

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7348c15ff180e1571446dba681221c93
http://hdl.handle.net/2066/244721

المؤلفون: C. G. Asteggiano, María Fernanda Peralta, Nydia Beatriz Azar, Niels Suldrup Suldrup, María Beatriz Bistué Millón, Raquel Dodelson de Kremer, Norberto Guelbert, Marcela Pereyra, N. Specola, Magali Papazoglu

المصدر: Pediatric Research. 84:837-841

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Glycosylation, chemistry.chemical_compound, Congenital Disorders of Glycosylation, 0302 clinical medicine, Mass Screening, Medicine, Exome, Child, Exome sequencing, chemistry.chemical_classification, medicine.diagnostic_test, Homozygote, Galactosemia, Transferrin, Phenotype, Child, Preschool, Female, medicine.symptom, Adult, Galactosemias, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Argentina, Collagen Type VI, 03 medical and health sciences, Neonatal Screening, Humans, Genetic Predisposition to Disease, Genetic Testing, Myopathy, Glycoproteins, Genetic testing, Isoelectric focusing, business.industry, Infant, Newborn, Genetic Variation, Infant, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, chemistry, Pediatrics, Perinatology and Child Health, Glycolipids, Isoelectric Focusing, business, Glycoprotein, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d91eaaf70272aed5de2421c85350ad
https://doi.org/10.1038/s41390-018-0206-6

المؤلفون: Belén Pérez, Celia Angaroni, Rocio Sánchez-Alcudia, Begoña Merinero, Celia Pérez-Cerdá, N Specola, P Rodríguez-Pombo, Moacir Wajner, Raquel Dodelson De Kremer, Verónica Cornejo, Lourdes R Desviat, Magdalena Ugarte, B Pérez, R Sánchez-Alcudia, B Merinero, C Pérez-Cerdá, L R Desviat, M Ugarte, C Angaroni, R D De Kremer, M Wajner

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.metabolicaschile.cl/archivos/Publicaciones/AMM%20%20y%20mutaciones%20suplemento%20JIMD.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1071.1671; http://www.metabolicaschile.cl/archivos/Publicaciones/AMM%20%20y%20mutaciones%20suplemento%20JIMD.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1071.1671
http://www.metabolicaschile.cl/archivos/Publicaciones/AMM%20%20y%20mutaciones%20suplemento%20JIMD.pdf

المؤلفون: Begoña Merinero, Moacir Wajner, Belén Pérez, Celia Angaroni, Pilar Rodríguez-Pombo, Magdalena Ugarte, Lourdes R. Desviat, Rocío Sánchez-Alcudia, N. Specola, Verónica Cornejo, Celia Pérez-Cerdá, Raquel Dodelson de Kremer

المصدر: Journal of Inherited Metabolic Disease. 33:307-314

مصطلحات موضوعية: Adult, medicine.medical_specialty, Methylmalonyl-CoA Decarboxylase, Propionic Acidemia, Time Factors, Adolescent, Genotype, DNA Mutational Analysis, Methylmalonic acid, Homocystinuria, Gastroenterology, Cell Line, Young Adult, chemistry.chemical_compound, Internal medicine, Genetics, Humans, Medicine, Age of Onset, Allele, Propionic acidemia, Child, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), business.industry, Infant, Newborn, Infant, Methylmalonyl-CoA Mutase, medicine.disease, Introns, Latin America, Phenotype, Treatment Outcome, Methylmalonic aciduria, chemistry, Child, Preschool, Mutation, CBLB, CBLC, business, Methylmalonic Acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5302195d3cdefd4364ba03f3c5d4aca
https://doi.org/10.1007/s10545-010-9116-4

المؤلفون: Willy Lissens, L. De Meirleir, N. Specola, Sara Seneca

المساهمون: Department of Embryology and Genetics, Pediatrics

المصدر: SEDICI (UNLP)
Universidad Nacional de La Plata
instacron:UNLP
Vrije Universiteit Brussel

مصطلحات موضوعية: Male, Carboxy-lyases, Biology, Genetics, Humans, Pyruvate Dehydrogenase (Lipoamide), gene mutation, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Cell Line, Transformed, chemistry.chemical_classification, pyruvate dehydrogenase complex, Pyruvate dehydrogenase complex, Human genetics, PDHc, Carbon-Carbon Lyases, Enzyme, Biochemistry, chemistry, Child, Preschool, Ciencias Médicas, Female, Presentation (obstetrics), Acidosis, Pyruvate decarboxylase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e311b991b6d1c7f34843e9d1da223c
https://doi.org/10.1023/a:1005347501111

المؤلفون: J. E. Abdenur, N. A. Chamoles, N. Specola, A. B. Schenone, L. Jorge, A. Guinle, C. I. Bernard, V. Levandowskiy, S. Lavorgna

المصدر: Current Views of Fatty Acid Oxidation and Ketogenesis ISBN: 9780306462009

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c6882806f211db3fccd93eac6e1f8944
https://doi.org/10.1007/0-306-46818-2_41

المؤلفون: J E, Abdenur, N A, Chamoles, N, Specola, A B, Schenone, L, Jorge, A, Guinle, C I, Bernard, V, Levandowskiy, S, Lavorgna

المصدر: Advances in experimental medicine and biology. 466

مصطلحات موضوعية: Fatty Acid Desaturases, Carnitine, Humans, Infant, Female, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Mass Spectrometry, Monitoring, Physiologic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::246d729e345eda7655578d5cdb422761
https://pubmed.ncbi.nlm.nih.gov/10709663

المؤلفون: J.-M. Saudubray, N. Specola, C. Charpentier

المصدر: Inborn Metabolic Diseases ISBN: 9783662031490

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c5f4f570d84aa1f527de75df017bcb99
https://doi.org/10.1007/978-3-662-03147-6_21

المؤلفون: Hélène Ogier, J. B. C. de Klerk, Jean-Marie Saudubray, Anne Lombès, Jean-Paul Bonnefont, N. Specola, Anne Vassault, M. Coude, Arnold Munnich, Marion Paturneau-Jouas

المصدر: European journal of pediatrics. 150(2)

مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Adolescent, Hydroxybutyrates, Ketone Bodies, Fatty Acids, Nonesterified, Glucagon, Lipid Metabolism, Inborn Errors, Internal medicine, Ketogenesis, medicine, 3-Hydroxybutyric Acid, Humans, Carnitine, Child, Beta oxidation, Pathological, business.industry, Infant, Fasting, Hypoglycemia, Endocrinology, Basal (medicine), Child, Preschool, Pediatrics, Perinatology and Child Health, Ketone bodies, Female, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bbbe71d904de4271f2c3caccf74de3f
https://pubmed.ncbi.nlm.nih.gov/2279514

المؤلفون: J.-M. Saudubray, N. Specola

المصدر: Inborn Metabolic Diseases ISBN: 9783662026151

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2abbb8e37873ac13c9e508bd1fc0f315
https://doi.org/10.1007/978-3-662-02613-7_32

المؤلفون: M. T. Vanier, Françoise Goutières, J. Mikol, N. Specola, Jean Aicardi

المصدر: Neurology. 40(1)

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Biopsy, Disease, Gangliosidosis, Hexosaminidase A, Internal medicine, medicine, Leukocytes, Dementia, Juvenile, Humans, Hexosaminidase, Child, Skin, chemistry.chemical_classification, Tay-Sachs Disease, medicine.diagnostic_test, Tay-Sachs disease, Fibroblasts, medicine.disease, beta-N-Acetylhexosaminidases, Endocrinology, Enzyme, chemistry, Child, Preschool, Immunology, Chronic Disease, Female, Neurology (clinical), Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6834de23a65f8300aa798b5887537001
https://pubmed.ncbi.nlm.nih.gov/2136940

المؤلفون: J. M. Saudubray, H. Ogier, J. P. Bonnefont, A. Munnich, A. Lombes, F. Hervé, G. Mitchel, B. Poll Thé, N. Specola, P. Parvy, J. Bardet, D. Rabier, M. Coudé, C. Charpentier, J. Frézal

المصدر: Studies in Inherited Metabolic Disease ISBN: 9789401069700

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::74a0c08576e710d366c14e4e23ff85a3
https://doi.org/10.1007/978-94-009-1069-0_4

المؤلفون: C.A.J.M. Jakobs, Anne Vassault, N. Specola, J. M. Saudubray, C. Charpentier, Anne Lombès, Jean-Paul Bonnefont, R. Day, B. Middleton

المصدر: Europe PubMed Central

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Diabetic ketoacidosis, Hydroxybutyrates, Biochemistry, Acetoacetates, Excretion, medicine, Humans, Idiopathic Ketotic Hypoglycemia, Acetyl-CoA C-Acetyltransferase, Thiolase, business.industry, food and beverages, Metabolic acidosis, Ketones, medicine.disease, Ketoacidosis, Sulfurtransferases, Ketone bodies, Female, Ketosis, Coenzyme A-Transferases, business, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27bb62971493dd84730ddd7c3a563ce6
https://pubmed.ncbi.nlm.nih.gov/2894307

المؤلفون: J Aicardi, J J Chevrie, N Specola

المصدر: Journal of neurology, neurosurgery, and psychiatry. 51(5)

مصطلحات موضوعية: medicine.medical_specialty, Angiomatosis, Adolescent, Electroencephalography, Lesion, Postoperative Complications, Calcinosis, Cortex (anatomy), Meningeal Neoplasms, Medicine, Humans, Meningeal Neoplasm, Child, Evoked Potentials, Cerebral Cortex, medicine.diagnostic_test, Pia mater, business.industry, medicine.disease, Surgery, Psychiatry and Mental health, medicine.anatomical_structure, Cerebral cortex, Child, Preschool, Pia Mater, Female, Neurology (clinical), Epilepsies, Partial, medicine.symptom, business, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16430aad46351e07fe52616803e1cee8
https://pubmed.ncbi.nlm.nih.gov/3136229

المؤلفون: Linda De Meirleir

المساهمون: N. Specola

الاتاحة: https://biblio.vub.ac.be/vubir/pyruvate-dehydrogenase-e1-alpha-deficiency-in-a-family-different-clinical-presentation-in-two-siblings(40baf95f-c6b2-4fa8-8b28-cc81d7a239c6).html

المؤلفون: Linda De Meirleir

المساهمون: N. Specola

Relation: https://biblio.vub.ac.be/vubir/pdh-e1-alpha-defeiciency-in-a-family-different-clinical-presentation-in-two-siblings(7383e0b2-3dac-42c0-bb8e-0521e82529a5).html

الاتاحة: https://biblio.vub.ac.be/vubir/pdh-e1-alpha-defeiciency-in-a-family-different-clinical-presentation-in-two-siblings(7383e0b2-3dac-42c0-bb8e-0521e82529a5).html