المؤلفون: Joachim Weis, Matthias Vorgerd, Andreas R. Janecke, J. Michael Schröder, Kay Nolte

المصدر: Acta neuropathologica. 116(5)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Cardiomyopathy, Biology, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Glycogen Storage Disease Type IV, Microscopy, Electron, Transmission, Sural Nerve, Pregnancy, 1,4-alpha-Glucan Branching Enzyme, medicine, Humans, Glycogen storage disease type IV, Floppy Infant, Muscle, Skeletal, Glucans, Hyaline, Inclusion Bodies, Infant, Newborn, Infant, Anatomy, medicine.disease, Spinal cord, Hypotonia, Glycogen Branching Enzyme Deficiency, medicine.anatomical_structure, Spinal Cord, Mutation, Female, Neurology (clinical), medicine.symptom, Myofibril

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27ec3c0eebf37e91b6267928495394b7Test
https://pubmed.ncbi.nlm.nih.gov/18661138Test

المؤلفون: Sergin Akpek, Ali Yusuf Oner, Ayse Serdaroglu, Ali Cansu

مصطلحات موضوعية: Fucosidosis, Pathology, medicine.medical_specialty, Enzyme deficiency, Magnetic Resonance Spectroscopy, chemistry.chemical_compound, Lysosomal storage disease, medicine, Choline, Humans, Radiology, Nuclear Medicine and imaging, Child, Neuroradiology, Aspartic Acid, business.industry, Brain, medicine.disease, Mr imaging, Magnetic Resonance Imaging, Hyperintensity, chemistry, Pediatrics, Perinatology and Child Health, Female, business, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab1bc6e54cbfa20a7d93edcac7bfd82Test
https://avesis.gazi.edu.tr/publication/details/daa211a4-85c1-476c-83c7-5824b59e12a9/oaiTest

المؤلفون: Simon, A., Bijzet, J., Voorbij, H.A.M., Mantovani, A., Van Der Meer, J.W.M., Drenth, J.P.H.

المصدر: Simon , A , Bijzet , J , Voorbij , H A M , Mantovani , A , Van Der Meer , J W M & Drenth , J P H 2004 , ' Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response ' , Journal of Internal Medicine , vol. 256 , no. 3 , pp. 247-253 . https://doi.org/10.1111/j.1365-2796.2004.01359.xTest

مصطلحات موضوعية: Acute phase response, Ferritin, Hyper-IgD syndrome, Immunoglobulin D, Pentraxin-3, Procalcitonin, C reactive protein, cholesterol, mevalonate kinase, pentraxin, phosphotransferase, unclassified drug, adolescent, adult, article, blood analysis, clinical article, controlled study, enzyme deficiency, female, fever, human, hypergammaglobulinemia, hyperimmunoglobulinemia D and periodic fever syndrome, inflammation, male, mevalonate kinase deficiency, priority journal, protein determination, sampling

العلاقة: https://research.rug.nl/en/publications/9e272bbc-a77c-4a01-b874-534871c6f779Test

الإتاحة: https://doi.org/10.1111/j.1365-2796.2004.01359.xTest
https://hdl.handle.net/11370/9e272bbc-a77c-4a01-b874-534871c6f779Test
https://research.rug.nl/en/publications/9e272bbc-a77c-4a01-b874-534871c6f779Test

المؤلفون: Berkan Gürakan, Aylin Tarcan, Hasan Kilicdag, Filiz Tiker, Hande Gulcan

المصدر: Clinical pediatrics. 45(3)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Enzyme deficiency, Neonatal intensive care unit, Turkey, Bilirubin, Gestational Age, Total serum bilirubin, Medical Records, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, 030225 pediatrics, Intensive Care Units, Neonatal, Medicine, Humans, Retrospective Studies, business.industry, Infant, Newborn, Gestational age, Jaundice, Phototherapy, Infant newborn, Jaundice, Neonatal, Glucosephosphate Dehydrogenase Deficiency, chemistry, Blood Group Incompatibility, Pediatrics, Perinatology and Child Health, Female, Thyroid function, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73ca1886e49d99fcbe37ef40e8f7a8e3Test
https://pubmed.ncbi.nlm.nih.gov/16708139Test

المؤلفون: Blasi, P, Palmerio, F, Caldarola, S, Rizzo, C, Carrozzo, R, Gibson, Km, Novelletto, A, Deodato, F, Cappa, M, Dionisi_vici, C, Malaspina, P

مصطلحات موضوعية: Genotype, phenotype, letter, speech disorder, reverse transcription polymerase chain reaction, consanguinity, Mental Retardation, case report, Humans, succinate semialdehyde dehydrogenase, gene mutation, human, gene location, family history, muscle hypotonia, Base Sequence, brain cortex atrophy, chemical analysis, clinical feature, disease severity, electroencephalogram, electroencephalography, enzyme deficiency, female, genotype, infant, molecular genetics, priority journal, psychomotor disorder, strabismus, DNA, Female, Infant, Mutation, Phenotype, Succinate-Semialdehyde Dehydrogenase, Settore BIO/18 - Genetica

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3667::326ebdb1c436e0fb34ef7fbf9e08ce5fTest
http://hdl.handle.net/2108/37937Test

مصطلحات موضوعية: Male, Biomedical Research, Unclassified drug, Physiology, Cholesterol 7alpha monooxygenase, Messenger, Apolipoprotein E3, Cholesterol ester, Srebf1 gene, Ketone Bodies, Gene, Animal tissue, Feces, Mice, Hyperlipoproteinemia Type III, Cholesterol 7α-hydroxylase, Bile acid synthesis, Vitamin E, Cholesterol 7-alpha-Hydroxylase, Vitamin A, Dgat1 protein, Feces level, Retinol, Messenger RNA, Atherogenic, Cytochrome P450 isoenzyme, Lipid diet, Triacylglycerol blood level, Sterols, Cholesterol, Cholesterol blood level, Hyperlipidemia, Blood, Bile acid biosynthesis, Very low density lipoprotein, Liver, Apolipoprotein E3 (Leidein), lipids (amino acids, peptides, and proteins), Atherogenic diet, Female, Cholesterol Esters, VLDL, Acyltransferase, Lipolysis, Lipoproteins, Knockout, Sterol regulatory element binding protein 1, Bile acid, Crosses, Biosynthesis, Vitamin, Catalysis, Diacylglycerol acyltransferase, Bile Acids and Salts, Knockout mouse, Apolipoproteins E, Antioxidant activity, Genetic, Genetics, Cholesterol metabolism, Animals, Animal model, Animal experiment, Diacylglycerol O-Acyltransferase, Biology, Enzyme deficiency, mouse, Triglycerides, SREBP-1, Sterol, Apolipoproteins B, Cross breeding, Mouse mutant, Lipogenesis, Alpha tocopherol, Lipoprotein synthesis, Nonhuman, Lipid Metabolism, Diet, Metabolism, RNA, Gene expression, Controlled study, Acyltransferases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dris___00893::e3c199dcb96de6b5639af7c92dc8a450Test
http://resolver.tudelft.nl/uuid:8ee08125-6e90-4b58-95dc-68aff9f596e0Test

المؤلفون: Patrick C.N. Rensen, Hans M.G. Princen, S.M. Post, Martine Groenendijk, Karianne Solaas

المساهمون: TNO Preventie en Gezondheid

المصدر: Arteriosclerosis, Thrombosis, and Vascular Biology, 4, 24, 768-774

مصطلحات موضوعية: Apolipoprotein E, Male, Very low-density lipoprotein, Biomedical Research, Unclassified drug, Physiology, Cholesterol 7alpha monooxygenase, Apolipoprotein E3, Cholesterol ester, Srebf1 gene, Ketone Bodies, Lipoproteins, VLDL, Gene, Animal tissue, chemistry.chemical_compound, Feces, Mice, Hyperlipoproteinemia Type III, Cholesterol 7α-hydroxylase, Bile acid synthesis, Vitamin E, Cholesterol 7-alpha-Hydroxylase, Vitamin A, Mice, Knockout, Feces level, Bile acid, Retinol, Messenger RNA, Cytochrome P450 isoenzyme, Lipid diet, Triacylglycerol blood level, Sterols, Cholesterol, Cholesterol blood level, Hyperlipidemia, Blood, Bile acid biosynthesis, Very low density lipoprotein, Liver, Apolipoprotein E3 (Leidein), Lipogenesis, Cholesteryl ester, lipids (amino acids, peptides, and proteins), Atherogenic diet, Female, Cholesterol Esters, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, medicine.drug_class, Acyltransferase, Lipolysis, Sterol regulatory element binding protein 1, Dgat1 protein, mouse, Biology, Cholesterol 7 alpha-hydroxylase, Biosynthesis, Vitamin, Catalysis, Diacylglycerol acyltransferase, Bile Acids and Salts, Knockout mouse, Apolipoproteins E, Antioxidant activity, Internal medicine, medicine, Genetics, Cholesterol metabolism, Animals, Animal model, Animal experiment, Diacylglycerol O-Acyltransferase, RNA, Messenger, Enzyme deficiency, Crosses, Genetic, Triglycerides, SREBP-1, Sterol, Apolipoproteins B, Cross breeding, Mouse mutant, Alpha tocopherol, Lipoprotein synthesis, Nonhuman, Lipid Metabolism, Endocrinology, Metabolism, chemistry, Diet, Atherogenic, Gene expression, Controlled study, Acyltransferases, Lipoprotein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbf6efd8e834969edb36dd044d3ab261Test
http://resolver.tudelft.nl/uuid:8ee08125-6e90-4b58-95dc-68aff9f596e0Test

المؤلفون: Anna Simon, J.P.H. Drenth, J.W.M. van der Meer, J. Bijzet, H.A.M. Voorbij, Alberto Mantovani

المساهمون: X-ray Crystallography

المصدر: Journal of Internal Medicine, 256, 247-53
Journal of Internal Medicine, 256, 3, pp. 247-253
Journal of Internal Medicine, 256, 3, pp. 247-53
Journal of Internal Medicine, 256(3), 247-253. Wiley
Journal of Internal Medicine, 256, 247-253. Blackwell publishing ltd

مصطلحات موضوعية: Acute phase response, Immunoglobulin D, immunoglobulin D, Procalcitonin, blood analysis, Effective Primary Care and Public Health [EBP 3], Medicine, Pentraxin-3, fever, clinical article, C reactive protein, Mevalonate kinase deficiency, biology, adult, article, Acute-phase protein, Middle Aged, Hyper-IgD syndrome, Familial Mediterranean Fever, unclassified drug, Serum Amyloid P-Component, C-Reactive Protein, female, priority journal, enzyme deficiency, Calcitonin, sampling, pentraxin, Calcitonin Gene-Related Peptide, male, statistical analysis, mevalonate kinase deficiency, Internal Medicine, Humans, controlled study, human, Protein Precursors, phosphotransferase, Acute-Phase Reaction, Ferritin, mevalonate kinase, business.industry, C-reactive protein, cholesterol, Mevalonate kinase, medicine.disease, Genetic defects of metabolism [UMCN 5.1], inflammation, adolescent, Immunology, biology.protein, Microbial pathogenesis and host defense [UMCN 4.1], hyperimmunoglobulinemia D and periodic fever syndrome, business, hypergammaglobulinemia, protein determination, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d388147ba492604bdc53b2c60608210Test
http://hdl.handle.net/2066/58612Test

المؤلفون: Jasminka Jakšić, Marija Meštrovic, Vjekoslav Krželj, Sanja Zlodre, Neven Pavlov, Janoš Terzić

مصطلحات موضوعية: Male, Veterinary medicine, Enzyme deficiency, Adolescent, Croatia, Population, Mineralogy, Glucosephosphate Dehydrogenase, Biology, Mediterranean Basin, Incubation period, G 6 pd deficiency, Prevalence, Humans, education, Incubation, Croatian, education.field_of_study, Fluorescent Spot Test, General Medicine, language.human_language, Glucosephosphate Dehydrogenase Deficiency, Spectrometry, Fluorescence, language, Female, Croatian adriatic coast, fluorescent spot test, G-6-PD deficiency, screening

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6abdca89be1e5ee129383026c37821ecTest
https://www.bib.irb.hr/113404Test

المؤلفون: A. Alegria, André Cunha, Maria da Luz Vale Dias, E. Martins, I. Maire, M. L. Cardoso

المصدر: Journal of inherited metabolic disease. 22(3)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Hydrops Fetalis, Diagnosis, Differential, Glycogen Storage Disease Type IV, Fatal Outcome, Cellular storage, Hydrops fetalis, Internal medicine, Genetics, medicine, Humans, Glycogen storage disease type IV, Pathological, Genetics (clinical), Fetus, Branching enzyme deficiency, business.industry, Infant, Newborn, medicine.disease, Hypotonia, Endocrinology, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88e65fcacce1b3f5d2db9033cb636b68Test
https://pubmed.ncbi.nlm.nih.gov/10384399Test