المؤلفون: Vera Tiemes, Christian Thiel, Pascale de Lonlay, Andrew Green, Gert Matthijs, Estela Rubio-Gozalbo, Brigitte Chabrol, Karin Huijben, Peter M. van Hasselt, Hans de Klerk, Nathalie Seta, Eva Morava, Francjan J. van Spronsen, Peter Witters, Marli Dercksen, Mohammed Al-Owain, Carolina Fischinger Moura de Souza, Graciella Uziel, Jaak Jaeken, Sabine Sigaudy, Eleni Komini, Donald Wurm, Gepke Visser, Dafne Dain Gandelman Horovitz, Ron A. Wevers, Addelkarim Ayadi, Martin Steinert, M. F. Mulder, Ida Vanessa Doederlein Schwartz, Andrea Bevot, Dirk Lefeber

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Pediatrics, RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9)

المصدر: Journal of Inherited Metabolic Disease, 39(5), 713-723. SPRINGER
Journal of Inherited Metabolic Disease, 39(5), 713. Springer Netherlands
Journal of Inherited Metabolic Disease, 39(5), 713-723. Springer Netherlands
Journal of Inherited Metabolic Disease, 39, 5, pp. 713-23
Journal of Inherited Metabolic Disease, 39, 713-23
Journal of Inherited Metabolic Disease, 39(5), 713-723. Wiley

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, 030105 genetics & heredity, Epilepsy, 0302 clinical medicine, Congenital Disorders of Glycosylation, Genetics(clinical), Child, MUTATION, Genetics (clinical), Muscle Weakness, Mental Disorders, Protein losing enteropathy, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, Phenotype, Glucosyltransferases, Child, Preschool, Failure to thrive, Muscle Hypotonia, Female, medicine.symptom, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, CONGENITAL DISORDER, Limb Deformities, Congenital, 03 medical and health sciences, Young Adult, Seizures, Internal medicine, medicine, Genetics, Journal Article, Humans, Genetic Association Studies, Retrospective Studies, business.industry, GLYCOSYLATION, Brachydactyly, Infant, Newborn, Infant, Membrane Proteins, medicine.disease, GENE, Endocrinology, CDG, business, Congenital disorder of glycosylation, 030217 neurology & neurosurgery, Congenital disorder

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea75702b803848a8831793403f3b823Test
https://research.rug.nl/en/publications/f2f3b5c3-cc47-4fae-8f3b-106a9ecee0bbTest

المؤلفون: C.E.M. Hollak, Wouter Meersseman, Eva Morava, M. F. Mulder, Dirk J. Lefeber, Frits A. Wijburg, Johannes M. F. G. Aerts, David Cassiman, Gepke Visser, E S de Sonnaville, Erik M. Akkerman, Ben J. H. M. Poorthuis, Marcel M.A.M. Mannens, K. E. Niezen-Koning, Ron A. Wevers, Gabor E. Linthorst, Johanna E. M. Groener

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM), Pediatric surgery, CCA - Innovative therapy, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, Human Genetics, ANS - Amsterdam Neuroscience, Radiology and Nuclear Medicine, Paediatric Metabolic Diseases

المصدر: Molecular Genetics and Metabolism, 107, 3, pp. 526-33
Molecular Genetics and Metabolism, 107(3), 526-533. ACADEMIC PRESS INC ELSEVIER SCIENCE
Hollak, C E M, de Sonnaville, E S V, Cassiman, D, Linthorst, G E, Groener, J E, Morava, E, Wevers, R A, Mannens, M, Aerts, J M F G, Meersseman, W, Akkerman, E, Niezen-Koning, K E, Mulder, M F, Visser, G, Wijburg, A, Lefeber, D & Poorthuis, B J H M 2012, ' Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients ', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 526-533 . https://doi.org/10.1016/j.ymgme.2012.06.015Test
Molecular Genetics and Metabolism, 107(3), 526-533. Academic Press Inc.
Molecular genetics and metabolism, 107(3), 526-533. Academic Press Inc.
Molecular Genetics and Metabolism, 107, 526-33

مصطلحات موضوعية: Male, Pathology, NIEMANN-PICK-DISEASE, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, Biochemistry, Gastroenterology, Severity of Illness Index, Pulmonary function testing, GAUCHER-DISEASE, Endocrinology, Belgium, Prospective Studies, Child, Lung, Netherlands, Niemann-Pick disease type B, Enzyme replacement therapy, Niemann-Pick Disease, Type B, Middle Aged, Niemann-Pick Disease, Type A, INTERMEDIATE PHENOTYPE, Respiratory Function Tests, PREVALENCE, medicine.anatomical_structure, Sphingomyelin Phosphodiesterase, Child, Preschool, Female, Niemann–Pick disease, Hepatomegaly, Adult, medicine.medical_specialty, Adolescent, Anemia, DISORDERS, BONE-MARROW, Genomic disorders and inherited multi-system disorders [IGMD 3], Internal medicine, Genetics, medicine, Humans, CHITOTRIOSIDASE, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, DCN NN - Brain networks and neuronal communication, Retrospective Studies, Cytopenia, business.industry, MUTATIONS, Infant, Glycostation disorders [IGMD 4], medicine.disease, Quantitative chemical shift imaging, Mutation, Splenomegaly, Acid sphingomyelinase (ASM) deficiency, Bone marrow, Pulmonary disease, business, Tomography, X-Ray Computed, Visceromegaly, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cffb6f2735ad337822712453fbd80ceTest
https://doi.org/10.1016/j.ymgme.2012.06.015Test

المؤلفون: Lindqvist, A. Spxe9gel, P. Ekelund, M. Garcia Vaz, E. Pierzynowski, S. Gomez, M. F. Mulder, H. Hedenbro, J. Groop, L. Wierup

المصدر: Diabetes.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=erc_________::bc179322280733599f94b75258aa23e9Test

المؤلفون: G. C. Van Den Bos, M. F. Mulder, A.A. van Lambalgen, J. J. Visser, Lambertus G. Thijs, E. Huisman

المصدر: American Journal of Physiology-Heart and Circulatory Physiology. 266:H1558-H1564

مصطلحات موضوعية: Male, Cardiac output, Physiology, Hemodynamics, Blood Pressure, Arginine, Nitric Oxide, Nitroarginine, Physiology (medical), Animals, Medicine, Cardiac Output, Rats, Wistar, Nitrites, Nitrates, business.industry, Systemic blood pressure, Rats, Endotoxins, Regional Blood Flow, Anesthesia, Acute Disease, Vascular Resistance, Cardiology and Cardiovascular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f76e6f59091b63ec68c0b59f56fad757Test
https://doi.org/10.1152/ajpheart.1994.266.4.h1558Test

المؤلفون: T. Teerlink, A.A. van Kraats, A.A. van Lambalgen, M. F. Mulder, G. C. Van Den Bos

المصدر: American Journal of Physiology-Heart and Circulatory Physiology. 266:H1581-H1587

مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Cardiac output, Physiology, Dopamine, Dopexamine, Kidney, Creatine, Phosphates, chemistry.chemical_compound, Dobutamine, Physiology (medical), Internal medicine, medicine, Animals, Rats, Wistar, Chemistry, Muscles, Myocardium, Hemodynamics, Skeletal muscle, Kidney metabolism, Rats, Endotoxins, medicine.anatomical_structure, Endocrinology, Liver, Renal blood flow, Lactates, Energy Metabolism, Cardiology and Cardiovascular Medicine, Perfusion, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f17c17b7c0636af2628c41cd08b8339cTest
https://doi.org/10.1152/ajpheart.1994.266.4.h1581Test

المؤلفون: Anthonie Willem Langerak, MJ Willemse, J M Wijkhuijs, V H J van der Velden, J. J. M. Van Dongen, Tomasz Szczepański, M. F. Mulder

المصدر: British Journal of Haematology. 114:104-106

مصطلحات موضوعية: Pregnancy, business.industry, Hematology, medicine.disease, Minimal residual disease, Umbilical cord, Fusion gene, Igh locus, medicine.anatomical_structure, hemic and lymphatic diseases, Acute lymphocytic leukemia, Cord blood, Immunology, medicine, Gestation, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d098e110dde4f88a59f6e4b72659ee2bTest
https://doi.org/10.1046/j.1365-2141.2001.02914.xTest

المؤلفون: V H, van der Velden, M J, Willemse, M F, Mulder, T, Szczepański, A W, Langerak, J M, Wijkhuijs, J J, van Dongen

المصدر: British journal of haematology. 114(1)

مصطلحات موضوعية: Gene Rearrangement, Homeodomain Proteins, Oncogene Proteins, Fusion, Reverse Transcriptase Polymerase Chain Reaction, Placenta, Pregnancy Trimester, Third, Infant, Newborn, Heteroduplex Analysis, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Fetal Blood, Polymerase Chain Reaction, Leukemic Infiltration, Pregnancy, Leukocytes, Mononuclear, Humans, Female, Pregnancy Complications, Neoplastic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::776755177833a9f219f0d62813019dffTest
https://pubmed.ncbi.nlm.nih.gov/11472352Test

المؤلفون: M F, Mulder, A A, van Lambalgen, A A, van Kraats, P G, Scheffer, A A, Bouman, G C, van den Bos, L G, Thijs

المصدر: Circulatory shock. 41(4)

مصطلحات موضوعية: Endotoxins, Male, Lactones, Ginkgolides, Regional Blood Flow, Hemodynamics, Animals, Vascular Resistance, Diterpenes, Platelet Activating Factor, Rats, Wistar, Shock, Septic, Rats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8d6024ba938d512d15d0ff506f482711Test
https://pubmed.ncbi.nlm.nih.gov/8143350Test

المؤلفون: Antoine A. van Lambalgen, T. Teerlink, Annemieke A. van Kraats, M. F. Mulder, Gerard C. van den Bos, Lambertus G. Thijs

المصدر: Journal of critical care. 8(2)

مصطلحات موضوعية: Lipopolysaccharides, Male, Cardiac output, medicine.medical_treatment, Dopamine, Dopexamine, Hemodynamics, Critical Care and Intensive Care Medicine, Dobutamine, medicine, Escherichia coli, Animals, Cardiac Output, Rats, Wistar, Saline, business.industry, Blood flow, Adrenergic Agonists, Shock, Septic, Rats, Endotoxins, medicine.anatomical_structure, Regional Blood Flow, Anesthesia, Shock (circulatory), medicine.symptom, business, medicine.drug, Artery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b50ed2c92bd60a55868194ea6cfee87Test
https://pubmed.ncbi.nlm.nih.gov/8102078Test

المؤلفون: H J, Blom, M F, Mulder, W M, Verweij

المصدر: Nederlands tijdschrift voor geneeskunde. 133(21)

مصطلحات موضوعية: Adult, Oxygen, Aging, Inpatients, Reference Values, Partial Pressure, Rest, Physical Exertion, Humans, Arteries, Middle Aged, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::704cd7b520b852abe9666b4bb077b514Test
https://pubmed.ncbi.nlm.nih.gov/2739788Test