المؤلفون: K.F.H. Assink, L.P.W.J. van den Heuvel, L.A.H. Monnens, Michèl A.A.P. Willemsen

المصدر: Human Genetics, 111, 544-547
Human Genetics, 111, 6, pp. 544-547

مصطلحات موضوعية: Glycosuria, medicine.medical_specialty, Monosaccharide Transport Proteins, endocrine system diseases, Nonsense mutation, Genes, Recessive, Disturbances of cerebral development in the young child, Inborn errors of metabolism, Glycosuria, Renal, Biology, medicine.disease_cause, Disturbances in biochemical and functional development of the kidney during childhood, Pathogenesis, Exon, Sodium-Glucose Transporter 2, Internal medicine, Genetics, medicine, Humans, Erfelijke stofwisselingsziekten, Gene, Genetics (clinical), DNA Primers, Mutation, Base Sequence, nutritional and metabolic diseases, Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijd, medicine.disease, Endocrinology, Child, Preschool, Cerebrale ontwikkelingsstoornissen bij het jonge kind, medicine.symptom, Cotransporter, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce8a644b18f788eb3ecb34957774f947
https://doi.org/10.1007/s00439-002-0820-5

المؤلفون: W. O. Renier, Jean L. Johnson, Wim Ruitenbeek, C.J.A.M. van der Burgt, K.V. Rajagopalan

المصدر: Prenatal Diagnosis, 22, 433-6
Prenatal Diagnosis, 22, 5, pp. 433-6

مصطلحات موضوعية: DNA, Complementary, Elucidation of hereditary disorders and their molecular diagnosis, DNA Mutational Analysis, Chorionic villus sampling, Pathofysiologie van Hersenen en Gedrag, Prenatal diagnosis, Inborn errors of metabolism, Pathophysiology of Brain and Behaviour, Biology, medicine.disease_cause, Polymerase Chain Reaction, chemistry.chemical_compound, Pregnancy, Sulfite oxidase, medicine, Humans, Oxidoreductases Acting on Sulfur Group Donors, Erfelijke stofwisselingsziekten, Gene, Sulfite oxidase deficiency, Cells, Cultured, Genetics (clinical), Fetus, Mutation, medicine.diagnostic_test, Infant, Newborn, Brain, Brain Diseases, Metabolic, Inborn, Obstetrics and Gynecology, Fibroblasts, Magnetic Resonance Imaging, Molecular biology, Chorionic Villi Sampling, chemistry, Mutation testing, Female, Chorionic Villi, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8bbbc10401e31a389f10f5c470d9564
https://doi.org/10.1002/pd.335

المؤلفون: G.J. Stock, L. Wagner, Georg F. Hoffmann, K. Hyland, Radhakant Sharma, C. Brautigam, F. Heitmann, Ron A. Wevers

المصدر: Neuropediatrics, 33, 113-7
Neuropediatrics, 33, 3, pp. 113-7

مصطلحات موضوعية: Vitamin, medicine.medical_specialty, Encephalopathy, Twins, Inborn errors of metabolism, Diagnosis, Differential, chemistry.chemical_compound, Norepinephrine, Fatal Outcome, Dopamine, Internal medicine, medicine, Humans, Erfelijke stofwisselingsziekten, Aromatic L-amino acid decarboxylase, Epilepsy, Neuromusculaire en neurometabole aandoeningen, business.industry, Homovanillic acid, Infant, Newborn, General Medicine, medicine.disease, Pyridoxine, Endocrinology, Neuromuscular and neurometabolic disorders, chemistry, Aromatic-L-Amino-Acid Decarboxylases, Pediatrics, Perinatology and Child Health, Brain Damage, Chronic, Neurology (clinical), Serotonin, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6dec8c073cef176ab6acc0388d1fe1
https://doi.org/10.1055/s-2002-33673

المؤلفون: Keyzer, M., Heijer, M. den, Blom, H.J., Bos, G., Willems, H.P.J., Gerrits, W.B.J., Rosendaal, F.R.

المصدر: Thrombosis and Haemostasis, 88, 723-8
Thrombosis and Haemostasis, 88, 5, pp. 723-8

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Endocrinology, Inborn errors of metabolism, Erfelijke stofwisselingsziekten

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9ab848412e58841be05478ac511e9bdf
https://hdl.handle.net/2066/186601

المؤلفون: G.C.H. Steenbergen-Spanjers, A.M. May, C.J. de Ruiter, A. de Haan, B.G.M. van Engelen, Ron A. Wevers

المساهمون: Kinesiology

المصدر: de Ruiter, C J, May, A M, van Engelen, B G M, Wevers, R A, Steenbergen-Spanjers, G C & de Haan, A 2002, ' Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase deficient Dutch subjects ', Clinical Science, vol. 102, pp. 531-539 . https://doi.org/10.1042/CS20010190
Clinical Science, 102, 531-9
Clinical Science, 102, 531-539. Portland Press Ltd.
Clinical Science, 102, 5, pp. 531-9

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, animal structures, Physical exercise, Isometric exercise, Inborn errors of metabolism, AMP Deaminase, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Humans, Erfelijke stofwisselingsziekten, Muscle, Skeletal, Exercise, Aged, Sedentary control, Muscle fatigue, business.industry, Neuromusculaire en neurometabole aandoeningen, AMP deaminase, General Medicine, Middle Aged, Quadriceps femoris muscle, Electric Stimulation, Intensity (physics), Endocrinology, Neuromuscular and neurometabolic disorders, Muscle Fatigue, Physical therapy, Female, medicine.symptom, business, Muscle contraction, Muscle Contraction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efefb8939cdcd41ea0bb56aaa205e35c
https://research.vu.nl/en/publications/d9a6f1dd-119f-400e-af2d-cfd679b1b03e

المؤلفون: Daan Kromhout, W. M. Monique Verschuren, Angelika de Bree, Henk J. Blom, Leo A. J. Kluijtmans

المصدر: Pharmacological Reviews, 54, 599-618
Pharmacological Reviews, 54, 4, pp. 599-618

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Homocysteine, Population, Physiology, Inborn errors of metabolism, chemistry.chemical_compound, Risk Factors, Internal medicine, Animals, Humans, Medicine, Myocardial infarction, Endothelial dysfunction, Erfelijke stofwisselingsziekten, Prospective cohort study, education, Aged, Pharmacology, education.field_of_study, biology, business.industry, Confounding, Middle Aged, medicine.disease, Cystathionine beta synthase, Endocrinology, chemistry, Cardiovascular Diseases, Methylenetetrahydrofolate reductase, biology.protein, Molecular Medicine, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54ad6cb0a39eaa7208b1c0838adab692
https://hdl.handle.net/2066/189217

المؤلفون: Befekadu Asfaw, Jana Ledvinová, Ernst Conzelmann, Irène Maire, Jan G.N. de Jong, Amparo Chabas, Detlev Schindler, Otto P. van Diggelen, Robert J. Desnick, Henk D. Bakker, Robert Dobrovolny, Tamotsu Kanzaki

المساهمون: Clinical Genetics

المصدر: Journal of Lipid Research, 43, 1096-1104. American Society for Biochemistry and Molecular Biology Inc.
Journal of Lipid Research, 43, 1096-1104
Journal of Lipid Research, 43, 7, pp. 1096-1104
Journal of Lipid Research, Vol 43, Iss 7, Pp 1096-1104 (2002)

مصطلحات موضوعية: Adult, Ceramide, Adolescent, blood group glycolipids, Globotriaosylceramide, Alpha (ethology), QD415-436, Inborn errors of metabolism, Biochemistry, Glycosphingolipids, ABO Blood-Group System, Cell Line, alpha-N-Acetylgalactosaminidase, chemistry.chemical_compound, Endocrinology, Glycolipid, medicine, Humans, Erfelijke stofwisselingsziekten, Child, Beta (finance), Skin, chemistry.chemical_classification, Globoside, Neuromusculaire en neurometabole aandoeningen, Chemistry, Cell Biology, in situ metabolism, Fibroblasts, medicine.disease, skin fibroblasts, lysosome targeting, Molecular biology, Fabry disease, carbohydrates (lipids), Hexosaminidases, Enzyme, Neuromuscular and neurometabolic disorders, Child, Preschool, α-galactosidase A deficiency, Fabry Disease, lipids (amino acids, peptides, and proteins), α-N-acetylgalactosaminidase deficiency

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd1f5a5f1b53d9c6981a7e99948228b
https://doi.org/10.1194/jlr.m100423-jlr200

المؤلفون: Klerk, M., Verhoef, P., Verbruggen, H.W., Schouten, E.G., Blom, H.J., Bos, G., Heijer, M. den

المصدر: Thrombosis and Haemostasis, 88, 2, pp. 230-5
Thrombosis and Haemostasis, 88, 230-5

مصطلحات موضوعية: Endocrinology, Inborn errors of metabolism, Erfelijke stofwisselingsziekten

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d045f2532acdf3f9c22b987b48bdbeaf
https://hdl.handle.net/2066/142813

المؤلفون: Cees Noordam, Barto J. Otten, G.J. Pesman, A Lacroix, N N'Diaye, C.G.J. Sweep, Ad R. M. M. Hermus

المصدر: ResearcherID
Journal of Pediatric Endocrinology & Metabolism, 15, 853-60
Journal of Pediatric Endocrinology & Metabolism, 15, 6, pp. 853-60

مصطلحات موضوعية: Cortisol secretion, Adenoma, medicine.medical_specialty, endocrine system, Adolescent, Hydrocortisone, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Adrenal Gland Neoplasms, Radioimmunoassay, Inborn errors of metabolism, Dexamethasone, Adrenocortical adenoma, Receptors, Gastrointestinal Hormone, Eating, Endocrinology, Gastric inhibitory polypeptide, Internal medicine, medicine, Adrenal adenoma, Humans, Erfelijke stofwisselingsziekten, Cushing Syndrome, Glucocorticoids, In Situ Hybridization, Chemical Endocrinology, business.industry, Reverse Transcriptase Polymerase Chain Reaction, Adrenalectomy, medicine.disease, Hormone receptor, Pediatrics, Perinatology and Child Health, Female, business, hormones, hormone substitutes, and hormone antagonists, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1fb04569b83d6d4650c11d50837fa2
https://hdl.handle.net/2066/142780

المؤلفون: Radhakant Sharma, K. Hyland, Georg F. Hoffmann, Agata Fiumara, Chad A. Brautigam, B Stoltenborg, Jacques Jaeken, Ron A. Wevers, Lieven Lagae

المصدر: Neuropediatrics, 33, 4, pp. 203-8
Neuropediatrics, 33, 203-8

مصطلحات موضوعية: Male, medicine.medical_specialty, Carboxy-lyases, Monoamine oxidase, Dopamine, Inborn errors of metabolism, Internal medicine, medicine, Humans, Child, Erfelijke stofwisselingsziekten, Aromatic L-amino acid decarboxylase, business.industry, Neuromusculaire en neurometabole aandoeningen, Infant, Newborn, General Medicine, Pyridoxine, Hypotonia, Endocrinology, Neuromuscular and neurometabolic disorders, Dopamine receptor, Aromatic-L-Amino-Acid Decarboxylases, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), Serotonin, medicine.symptom, business, Metabolism, Inborn Errors, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a894c947c258d392901cf6034c818c8
https://doi.org/10.1055/s-2002-34497