يعرض 1 - 10 نتائج من 112 نتيجة بحث عن '"Glycostation disorders [IGMD 4]"', وقت الاستعلام: 1.68s تنقيح النتائج
  1. 1
    Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport

    المؤلفون: Arjan P.M. de Brouwer, Angel Ashikov, Rita Gerardy-Schahn, Samuel Schmidt, Joris H. Robben, Miski Mohamed, Maïlys Guillard, Ron A. Wevers, B. van den Heuvel, Peter M.T. Deen, Eva Morava, Dirk Lefeber

    المصدر: Neurology, 81, 7, pp. 681-7
    Neurology, 81, 681-7

    مصطلحات موضوعية: Male, Chemical and physical biology [NCMLS 7], medicine.medical_specialty, Glycosylation, Ataxia, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], DCN MP - Plasticity and memory, Blotting, Western, DNA Mutational Analysis, Mutant, Mutation, Missense, Biology, Hemorrhagic Disorders, medicine.disease_cause, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Abnormal protein glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, Child, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Genetics, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], medicine.disease, Disease gene identification, Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Renal disorder Membrane transport and intracellular motility [IGMD 9], carbohydrates (lipids), Bleeding diathesis, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, Cytidine Monophosphate N-Acetylneuraminic Acid, Nucleotide Transport Proteins, Mutation testing, Female, Neurology (clinical), medicine.symptom

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd2210be2243f322d3a0fb594dd4238Test
    https://doi.org/10.1212/wnl.0b013e3182a08f53Test


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  2. 2
    Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

    المؤلفون: Arjen R. Mensenkamp, Ron A. Wevers, Jyotsna U. Rao, Angelina G. Goudswaard, Henricus P.M. Kunst, Udo F. H. Engelke, Karel Pacak, Graeme Eisenhofer, Nan Qin, Ad Hermus, Jacques W. M. Lenders, Richard J. Rodenburg, Henri J. L. M. Timmers, Benno Kusters, Fred C.G.J. Sweep

    المصدر: Clinical Cancer Research; Vol 19
    Clinical Cancer Research, 19, 3787-95
    Clinical Cancer Research, 19, 14, pp. 3787-95

    مصطلحات موضوعية: Male, Cancer Research, SDHB, Adrenal Gland Neoplasms, Succinic Acid, DCN PAC - Perception action and control, Mitochondrion, Catecholamines, 0302 clinical medicine, Paraganglioma, Citrate synthase, 0303 health sciences, Cardiovascular diseases [NCEBP 14], Electron Transport Complex II, Succinate dehydrogenase, Middle Aged, Mitochondria, 3. Good health, Mitochondrial medicine [IGMD 8], Oncology, 030220 oncology & carcinogenesis, Female, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Genotype, Pheochromocytoma, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, Internal medicine, ONCOL 3 - Translational research DCN MP - Plasticity and memory, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], Hormonal regulation [IGMD 6], Glycostation disorders [IGMD 4], medicine.disease, Endocrinology, Hereditary cancer and cancer-related syndromes Genomic disorders and inherited multi-system disorders [ONCOL 1], biology.protein, Catecholamine, Hormonal regulation Aetiology, screening and detection [IGMD 6], SDHD, Energy Metabolism

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8b55612d5f34a85347800592c9f568Test
    https://doi.org/10.1158/1078-0432.ccr-12-3922Test


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  3. 3
    Mutations in DDHD2, Encoding an Intracellular Phospholipase A(1), Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

    المؤلفون: Erik-Jan Kamsteeg, Saskia D. van der Velde-Visser, Michael T. Geraghty, Christian Gilissen, Dirk J. Lefeber, Lihadh Al-Gazali, Joris A. Veltman, Han G. Brunner, Bart P.C. van de Warrenburg, Marinette van der Graaf, Amanda C. Smith, Martin Lammens, Willem M.R. van den Akker, Riad Bayoumi, Salma Ben-Salem, Arjan P.M. de Brouwer, Jeremy Schwartzentruber, Lisenka E.L.M. Vissers, Hans van Bokhoven, Bonnie Nijhof, Michèl A.A.P. Willemsen, Annette Schenck, Anna Castells Nobau, Corrie E. Erasmus, Adinda Diekstra, Bassam R. Ali, Anneke T. Vulto-van Silfhout, Sascha Vermeer, Ron A. Wevers, Irene M. Janssen, Susanne T. de Bot, Saeed Al-Yahyaee, Said Tariq, Peter Humphreys, Thachillath Pramathan, Bert B.A. de Vries, Irene Otte-Höller, Hubertus P. H. Kremer, Ilse I.G.M. van de Vondervoort, Janneke H M Schuurs-Hoeijmakers

    المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)

    المصدر: American Journal of Human Genetics, 91, 6, pp. 1073-81
    American Journal of Human Genetics, 91(6), 1073-1081. CELL PRESS
    American Journal of Human Genetics, 91, 1073-81

    مصطلحات موضوعية: Central Nervous System, Male, THIN CORPUS-CALLOSUM, INTELLECTUAL DISABILITY, Phospholipase, medicine.disease_cause, PATHWAY, Genotype, Gene Order, Genetics(clinical), PLASTICITY, Child, Genetics (clinical), Genetics, Mutation, Functional imaging [IGMD 1], Phenotype, Magnetic Resonance Imaging, Pedigree, DROSOPHILA, Phospholipases, Child, Preschool, Female, Intracellular, Adult, Adolescent, SEQUENCING DATA, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, Genes, Recessive, Neuroimaging, Biology, KIAA0725P, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Translational research [ONCOL 3], Report, medicine, Humans, TRAFFICKING, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Health aging / healthy living Cardiovascular diseases [IGMD 5], NEUROMUSCULAR-JUNCTION, Phospholipase A, Base Sequence, Spastic Paraplegia, Hereditary, Facies, Lipid metabolism, Glycostation disorders [IGMD 4], medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], nervous system diseases, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], MAMMALIAN SEC23P-INTERACTING PROTEIN

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e6f6a1647a497e7f32c1894d808fadTest
    https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1Test


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  4. 4
    DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

    المؤلفون: Barone, RITA MARIA ELISA, Aiello, C, Race, V, Morava, E, Foulquier, F, Riemersma, M, Passarelli, C, Concolino, D, Carella, M, Santorelli, F, Vleugels, W, Mercuri, E, Garozzo, Domenico, Sturiale, L, Messina, S, Jaeken, J, Fiumara, Agata, Wevers, Ra, Bertini, E, Matthijs, G, 2012 Oct, Lefeber D. J. Ann N. e. u. r. o. l., 72:550, 8.

    المصدر: Annals of Neurology, 72, 550-8
    Annals of neurology 72 (2012): 550–558. doi:10.1002/ana.23632
    info:cnr-pdr/source/autori:R.Barone, Ch.Aiello, V.Race, E.Morava, F.Foulquier, M.Riemersma, Ch.Passarelli, D.Concolino, M.Carella, F.Santorelli, W.Vleugels, E.Mercuri, D.Garozzo, L.Sturiale, S.Messina, J.Jaeken, A.Fiumara, R.A.Wevers, E.Bertini, G.Matthijs, D. J.Lefeber/titolo:DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy/doi:10.1002%2Fana.23632/rivista:Annals of neurology/anno:2012/pagina_da:550/pagina_a:558/intervallo_pagine:550–558/volume:72
    Annals of Neurology, 72, 4, pp. 550-8

    مصطلحات موضوعية: Male, Glycosylation, DNA Mutational Analysis, Drug Resistance, Endoplasmic Reticulum, medicine.disease_cause, Compound heterozygosity, Mannosyltransferases, Muscular Dystrophies, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Pregnancy, Missense mutation, Muscular dystrophy, Child, Dystroglycans, Mutation, Liver Diseases, Middle Aged, Hypotonia, Neurology, Child, Preschool, Microcephaly, Female, medicine.symptom, Lipid glycosylation, Adult, medicine.medical_specialty, Adolescent, Molecular Sequence Data, Mutation, Missense, Vision Disorders, DOLICHOL-PHOSPHATE-MANNOSE, CAUSES CONGENITAL DISORDER, MAMMALIAN-CELLS, GLYCOSYLATION, SYNTHASE, BIOSYNTHESIS, GENE, DPM1, PROTEIN, IE, Coagulation Protein Disorders, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Internal medicine, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Aged, Epilepsy, Electromyography, Endoplasmic reticulum, Infant, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Endocrinology, chemistry, Neurology (clinical), Isoelectric Focusing, Mannose

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f8f06d840958b8a38d6b1ac4c27275Test
    https://doi.org/10.1002/ana.23632Test


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  5. 5
    Sjögren–Larsson syndrome in clinical practice

    المؤلفون: Marinette van der Graaf, Michèl A.A.P. Willemsen, Thomas Theelen, Hans R. Waterham, Ron A. Wevers, Joris Fuijkschot, Imelda J. M. de Groot, Marieke M B Seyger, Ronald J.A. Wanders

    المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

    المصدر: Journal of inherited metabolic disease, 35(6), 955-962. Springer Netherlands
    Journal of Inherited Metabolic Disease, 35, 955-62
    Journal of Inherited Metabolic Disease, 35, 6, pp. 955-62

    مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, DCN MP - Plasticity and memory, MEDLINE, Eye, Auto-immunity, transplantation and immunotherapy [N4i 4], Evaluation of complex medical interventions Functional imaging [NCEBP 2], Original research, Genomic disorders and inherited multi-system disorders [IGMD 3], Pregnancy, Genetics, medicine, Humans, Medical physics, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Skin pathology, DCN NN - Brain networks and neuronal communication, Health aging / healthy living Cardiovascular diseases [IGMD 5], Genetics (clinical), Skin, Sjögren–Larsson syndrome, integumentary system, business.industry, Infant, Newborn, Brain, Diagnostic test, Functional imaging [IGMD 1], Genetic Therapy, Glycostation disorders [IGMD 4], medicine.disease, Aldehyde Oxidoreductases, Carotenoids, Human Movement & Fatigue DCN PAC - Perception action and control [NCEBP 10], Review article, Clinical Practice, Sjogren-Larsson Syndrome, Mutation, Premature Birth, Treatment strategy, Female, Bezafibrate, business

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31de274646bc41042af17b338ca8a6eeTest
    https://doi.org/10.1007/s10545-012-9518-6Test


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  6. 6
    Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

    المؤلفون: David Cheillan, Stella De Man, Suzanna G.M. Frints, Antonia Ribes Rubio, HATEM AZZOUZ, Klary E Niezen-Koning, Efraim Rosenberg, Carla Valongo, Sarina Kant, KATRIN OUNAP

    المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Laboratory Medicine, Human genetics, NCA - Childhood White Matter Diseases, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Polikliniek (9)

    المصدر: Molecular Genetics and Metabolism, 105(4), 596-601. ACADEMIC PRESS INC ELSEVIER SCIENCE
    Molecular Genetics and Metabolism, 105(4), 596-601. Academic Press Inc.
    Molecular Genetics and Metabolism, 105, 596-601
    Betsalel, O T, Pop, A, Rosenberg, E H, Fernandez-Ojeda, M, Jakobs, C A J M & Salomons, G S 2012, ' Detection of variants in SLC6A8 and functional analysis of unclassified missense variants ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 596-601 . https://doi.org/10.1016/j.ymgme.2011.12.022Test
    Molecular Genetics and Metabolism, 105, 4, pp. 596-601

    مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, medicine.disease_cause, Biochemistry, Plasma Membrane Neurotransmitter Transport Proteins, chemistry.chemical_compound, Endocrinology, Missense variants, Mental Retardation, Missense mutation, Site-Directed, Cells, Cultured, Genetics, Mutation, Cultured, Blotting, Real-time polymerase chain reaction, Female, Western, Heterozygote, Cells, Blotting, Western, Mutation, Missense, Mutagenesis (molecular biology technique), Nerve Tissue Proteins, Biology, SLC6A8, Creatine, Real-Time Polymerase Chain Reaction, LOVD, Genomic disorders and inherited multi-system disorders [IGMD 3], DHPLC, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Heterozygote advantage, Glycostation disorders [IGMD 4], X-Linked, Fibroblasts, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], chemistry, Mutagenesis, Mental Retardation, X-Linked, Mutagenesis, Site-Directed, Missense, Creatine transporter

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9ae52f281961e053d3c517781e1147Test
    https://cris.maastrichtuniversity.nl/en/publications/d080454e-26b4-4a1a-a10c-7b27ead35fbcTest


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  7. 7
    Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

    المؤلفون: Justyna Paprocka, Eva Morava, Lambert P. van den Heuvel, Ron A. Wevers, Christian Thiel, Maciej Adamowicz, Ewa Jamroz, Joris A. Veltman, Richard J. Rodenburg, Sharitakoemari Timal, Christian Gilissen, Francjan J. van Spronsen, Karin Huijben, Jolanta Sykut-Cegielska, Ilse Eidhof, Ludwig Lehle, Alexander Hoischen, Christian Körner, Dirk Lefeber

    المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)

    المصدر: Human Molecular Genetics, 21, 19, pp. 4151-61
    Human Molecular Genetics, 21, 4151-61
    Human Molecular Genetics, 21(19), 4151-4161. Oxford University Press

    مصطلحات موضوعية: Male, Candidate gene, Glycosylation, Aetiology, screening and detection [ONCOL 5], Compound heterozygosity, medicine.disease_cause, SERUM, Cohort Studies, TRANSFERASE, Congenital Disorders of Glycosylation, Exome, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, DPAGT1, General Medicine, Disease gene identification, Pedigree, DEFICIENCY, DOLICHOL, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, STEPS, ENZYMES, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Molecular Sequence Data, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, medicine, Humans, YEAST, BIOSYNTHESIS, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Genome, Human, MUTATIONS, Infant, Proteins, Sequence Analysis, DNA, Glycostation disorders [IGMD 4], CDG, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9da8dfe4b5f3208627f62c6929d6debTest
    https://hdl.handle.net/2066/107982Test


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  8. 8
    Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

    المؤلفون: Martin Lammens, Robert W. Taylor, H. Barth, Ron A. Wevers, Saskia B. Wortmann, B. Trutnau, Richard J. Rodenburg, Kate Craig, Michael Champion, Eva Morava, Lambert P. van den Heuvel, Jan A.M. Smeitink, Michiel F. Schreuder

    المساهمون: Pediatric surgery, ICaR - Circulation and metabolism

    المصدر: Wortmann, S B, Champion, M P, van den Heuvel, L, Barth, H, Trutnau, B, Craig, K, Lammens, M, Schreuder, M F, Taylor, R W, Smeitink, J A M, Wevers, R A, Rodenburg, R J & Morava, E 2012, ' Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? ', European Journal of Medical Genetics, vol. 55, no. 10, pp. 552-556 . https://doi.org/10.1016/j.ejmg.2012.06.002Test
    European Journal of Medical Genetics, 55, 10, pp. 552-6
    European Journal of Medical Genetics, 55, 552-6
    European Journal of Medical Genetics, 55(10), 552-556. Elsevier Masson SAS

    مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, medicine.medical_specialty, RNA, Transfer, Leu, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Encephalopathy, MELAS syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Gastroenterology, DNA, Mitochondrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Kearns–Sayre syndrome, Renal tubular acidosis, Mitochondrial myopathy, Renal tubular dysfunction, Internal medicine, Genetics, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Creatine Kinase, Genetics (clinical), Renal disorder [IGMD 9], business.industry, Hypertrophic cardiomyopathy, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Infant, General Medicine, Acidosis, Renal Tubular, Syndrome, Glycostation disorders [IGMD 4], Cardiomyopathy, Hypertrophic, medicine.disease, Pedigree, Renal disorder Membrane transport and intracellular motility [IGMD 9], Mitochondrial medicine [IGMD 8], Endocrinology, Genes, Mitochondrial, Lactic acidosis, Mutation, Muscle Hypotonia, Acidosis, Lactic, Female, business

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9f553e87ca4aa8cbe20ede63dc2774Test
    https://hdl.handle.net/1871/42986Test


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  9. 9
    Sex-specific differences in the dynamics of cocaine- and amphetamine-regulated transcript and nesfatin-1 expressions in the midbrain of depressed suicide victims vs. controls

    المؤلفون: Bernard Bloem, Eric W. Roubos, Eva Morava, Lu Xu, Miklós Palkovits, Tamas Kozicz, Gabor Faludi

    المصدر: Neuropharmacology, 62, 297-303
    Neuropharmacology, 62, 1, pp. 297-303

    مصطلحات موضوعية: Adult, Male, Cart, medicine.medical_specialty, Functional Neurogenomics Human Movement & Fatigue [DCN 2], Neurophysiology, Nerve Tissue Proteins, Cocaine and amphetamine regulated transcript, Cellular and Molecular Neuroscience, Mesencephalon, Internal medicine, medicine, Humans, Nucleobindins, RNA, Messenger, Psychiatry, Depression (differential diagnoses), Aged, Pharmacology, Analysis of Variance, Sex Characteristics, Depression, Calcium-Binding Proteins, Glycostation disorders [IGMD 4], Middle Aged, medicine.disease, Nucleobindin 2, DNA-Binding Proteins, Suicide, Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], Endocrinology, Mood, Mood disorders, Postmortem Changes, Anxiety, Major depressive disorder, Female, medicine.symptom, Psychology, Microdissection

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d28cca57326771353da32feba29b8ba9Test
    https://doi.org/10.1016/j.neuropharm.2011.07.023Test


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  10. 10
    Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

    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


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