نتائج البحث - "Glycostation disorders [IGMD 4]"

1

Mucopolysaccharidosis Type IIIA: Clinical Spectrum and Genotype-Phenotype Correlations

المؤلفون: George J G Ruijter, Otto P. van Diggelen, Dicky J. Halley, Hennie T. Brüggenwirth, Ron A. Wevers, Marlies J. Valstar, Renske Olmer, Ben J. H. M. Poorthuis, Frits A. Wijburg, Sanne Neijs

المساهمون: Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Pediatrics, Clinical Genetics

المصدر: Annals of neurology, 68(6), 876-887. John Wiley and Sons Inc.
Annals of Neurology, 68, 876-87
Annals of Neurology, 68(6), 876-887. John Wiley & Sons Inc.
Annals of Neurology, 68, 6, pp. 876-87

مصطلحات موضوعية: Male, Pathology, Hydrolases, Mucopolysaccharidosis, DNA Mutational Analysis, Behavioral Symptoms, Kaplan-Meier Estimate, Compound heterozygosity, Gastroenterology, Severity of Illness Index, Cohort Studies, Mucopolysaccharidosis III, Pregnancy, Genotype, Medicine, Missense mutation, Child, Mucopolysaccharidosis Type IIIA, Hearing Disorders, Cells, Cultured, Sanfilippo syndrome, Skin, Middle Aged, Phenotype, Neurology, Child, Preschool, Regression Analysis, Female, Functional Neurogenomics [DCN 2], Adult, Sleep Wake Disorders, medicine.medical_specialty, Adolescent, Vision Disorders, Mucopolysaccharidosis type III, Young Adult, SDG 3 - Good Health and Well-being, Internal medicine, Humans, Genetic Association Studies, Epilepsy, business.industry, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Mutation, Neurology (clinical), business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2a6cab4307795505b06f7a738cda5dTest
https://pure.eur.nl/en/publications/c4e808bb-9c46-4f16-b14c-bd400c3109b1Test

2

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

المؤلفون: Ernie M.H.F. Bongers, Lambert P. van den Heuvel, L.T.L. Sie, Wolfram Kress, Richard J. Rodenburg, Han G. Brunner, Eva Morava

المصدر: Clinical Dysmorphology, 16, 131-4
Clinical Dysmorphology, 16, 2, pp. 131-4

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Atrophy, Translational research [ONCOL 3], Mitochondrial Encephalomyopathies, Internal medicine, Humans, Medicine, Genetics (clinical), Renal disorder [IGMD 9], Genome, Human, business.industry, Infant, Nucleic Acid Hybridization, Tall Stature, Syndrome, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Body Height, Optic Atrophy, Mitochondrial medicine [IGMD 8], Endocrinology, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Anatomy, Cellular energy metabolism [UMCN 5.3], business, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9188307b84d57014c2f714e0baf3b86bTest
https://doi.org/10.1097/mcd.0b013e328014715eTest

3

Mitochondrial dysfunction in a patient with Joubert syndrome

المؤلفون: H.Y. Kroes, Eva Morava, L.P.W.J. van den Heuvel, A. Dinopoulos, J.H.L.M. van Bokhoven, Jan A.M. Smeitink, Richard J. Rodenburg

المصدر: Neuropediatrics, 36, 214-7
Neuropediatrics, 36, 3, pp. 214-7

مصطلحات موضوعية: Pyruvate decarboxylation, medicine.medical_specialty, Pathology, Mitochondrial Diseases, Ataxia, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Eye Diseases, Mitochondrial disease, Joubert syndrome, Marfan Syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], Cerebellum, Internal medicine, medicine, Neurosensory disorders [UMCN 3.3], Humans, Abnormalities, Multiple, Cerebellar hypoplasia, Psychomotor retardation, business.industry, Infant, Newborn, Facies, Syndrome, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Hypotonia, eye diseases, Pyruvate dehydrogenase deficiency, Mitochondrial medicine [IGMD 8], Endocrinology, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Female, Neurology (clinical), medicine.symptom, Cellular energy metabolism [UMCN 5.3], business, Functional Neurogenomics [DCN 2], Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1eb18ecc476d8d18fad572bab71820fTest
https://hdl.handle.net/2066/48821Test

4

Meningoencephalitis caused by Streptococcus pneumoniae: a diagnostic and therapeutic challenge. Diagnosis with diffusion-weighted MRI leading to treatment with corticosteroids

المؤلفون: Paul M. Parizel, Patrick Cras, Philippe G. Jorens, Katrien Smets, Hendrik E. Demey, Ron A. Wevers, Kris Jadoul, Marcel M. Verbeek

المصدر: Neuroradiology
Neuroradiology, 47, 10, pp. 758-64
Neuroradiology, 47, 758-64

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Encephalomyelitis, Contrast Media, Neuroinformatics [DCN 3], medicine.disease_cause, Methylprednisolone, Central nervous system disease, Cerebrospinal fluid, Meningoencephalitis, Streptococcus pneumoniae, medicine, Perception and Action [DCN 1], Humans, Radiology, Nuclear Medicine and imaging, Alzheimer Centre [NCEBP 11], Brain abscess, Glucocorticoids, Aged, business.industry, Middle Aged, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Diffusion Magnetic Resonance Imaging, Genetic defects of metabolism [UMCN 5.1], Female, Neurology (clinical), Cardiology and Cardiovascular Medicine, business, Tomography, X-Ray Computed, Meningitis, Functional Neurogenomics [DCN 2], Encephalitis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eed65763879186858b5fb5d50412561Test
https://doi.org/10.1007/s00234-005-1423-3Test

5

Tyrosine hydroxylase deficiency with severe clinical course

المؤلفون: Dimitrios I. Zafeiriou, Michèl A.A.P. Willemsen, Marcel M. Verbeek, A. Ververi, Euthymia Vargiami, Ron A. Wevers

المصدر: Molecular Genetics and Metabolism, 97, 1, pp. 18-20
Molecular Genetics and Metabolism, 97, 18-20

مصطلحات موضوعية: Male, medicine.medical_specialty, Pyramidal Tract Dysfunction, Tyrosine 3-Monooxygenase, Energy and redox metabolism [NCMLS 4], Endocrinology, Diabetes and Metabolism, Biochemistry, Genomic disorders and inherited multi-system disorders [IGMD 3], Catecholamines, Endocrinology, Hypokinesia, Internal medicine, Perception and Action [DCN 1], Genetics, medicine, Humans, Missense mutation, Child, Molecular Biology, Dystonia, Tyrosine hydroxylase, business.industry, Parkinsonism, Selegiline, Infant, Glycostation disorders [IGMD 4], medicine.disease, Hypotonia, nervous system diseases, Case-Control Studies, Child, Preschool, medicine.symptom, business, Functional Neurogenomics [DCN 2], medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe199040d1aad2ec984c2db1a0d0849Test
https://doi.org/10.1016/j.ymgme.2009.02.001Test

6

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

المؤلفون: Johann Penzien, Michèl A.A.P. Willemsen, Olaf Bodamer, Dirk J. Lefeber, Ron A. Wevers, Jorg de Ruijter, Arjan P.M. de Brouwer, Tony Roscioli, Lambert P. van den Heuvel, Eva Morava, Maïlys Guillard

المصدر: Guillard, M, Morava, E, de Ruijter, J, Roscioli, T, Penzien, J, van, D H L, Willemsen, MA, de, B A, Bodamer, OA, Wevers, RA & Lefeber, DJ 2011, ' B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement ', The Journal of Pediatrics, vol. 159, no. 6, pp. 1041-1043.e2 . https://doi.org/10.1016/j.jpeds.2011.08.007Test
Journal of Pediatrics, 159, 1041-1043 e2
Journal of Pediatrics, 159, 6, pp. 1041-1043 e2

مصطلحات موضوعية: Male, Glycosylation, GALACTOSYLTRANSFERASE DEFICIENCY, Single-nucleotide polymorphism, Neuroinformatics [DCN 3], Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Congenital Disorders of Glycosylation, Medicine, SNP, Humans, Pediatrics, Perinatology, and Child Health, Clinical phenotype, Child, Psychomotor learning, business.industry, Liver Diseases, Glycostation disorders [IGMD 4], Galactosyltransferases, Phenotype, Multisystem disease, Intestinal Diseases, chemistry, Pediatrics, Perinatology and Child Health, Immunology, Female, business, Perception and Action Glycostation disorders [DCN 1], Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10368a016a5a0b03c58e412ff9be61eTest
https://doi.org/10.1016/j.jpeds.2011.08.007Test

7

Chitotriosidase activity in controls and multiple sclerosis

المؤلفون: Peter Joseph Jongen, D. J. Lefeber, Marcel M. Verbeek

المصدر: Acta Neurologica Scandinavica, 121, 5, pp. 356-7
Acta Neurologica Scandinavica, 121, 356-7

مصطلحات موضوعية: Neurology, business.industry, Multiple sclerosis, Immunology, medicine, Neurology (clinical), General Medicine, Neuroinformatics [DCN 3], Glycostation disorders [IGMD 4], medicine.disease, business, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dabe6bd8206cd69e9c77e09eed19ddaTest
https://hdl.handle.net/2066/87245Test

8

Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

المؤلفون: C Koerner, SA de Munnik, R.A. Wevers, Dirk J. Lefeber, Jefte M. Drijvers, Carlo Marcelis, Christian Thiel, Eva Morava, Rolph Pfundt, N van de Leeuw

المصدر: Clinical Genetics, 77, 5, pp. 507-9
Clinical Genetics, 77, 507-9

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Brachytelephalangy, Gene mutation, Neuroinformatics [DCN 3], Glycostation disorders [IGMD 4], medicine.disease, Genomic disorders and inherited multi-system disorders [IGMD 3], Endocrinology, Dysplasia, Internal medicine, Genetics, Cancer research, Medicine, business, Congenital disorder of glycosylation, Functional Neurogenomics [DCN 2], Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e64fda99f5c141a2ff31ad280659930Test
https://hdl.handle.net/2066/89213Test

9

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

المؤلفون: Maciej Adamowicz, Ron A. Wevers, Hanna N. Wosik, Eva Morava, Maïlys Guillard, Dirk Lefeber, Johannes R.M. Cruysberg, Jolanta Sykut-Cegielska

المصدر: British Journal of Ophthalmology, 93, 3, pp. 350-4
British Journal of Ophthalmology, 93, 350-4

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Intraocular pressure, Pediatrics, congenital, hereditary, and neonatal diseases and abnormalities, Energy and redox metabolism [NCMLS 4], genetic structures, Vision Disorders, Glaucoma, Cataract, Genomic disorders and inherited multi-system disorders [IGMD 3], Cellular and Molecular Neuroscience, Congenital Disorders of Glycosylation, Epidemiology, Retinitis pigmentosa, medicine, Perception and Action [DCN 1], Humans, Eye Abnormalities, Prospective Studies, Age of Onset, Prospective cohort study, Child, business.industry, Glycostation disorders [IGMD 4], medicine.disease, Sensory Systems, eye diseases, Surgery, Posterior segment of eyeball, Strabismus, Ophthalmology, El Niño, Evaluation of complex medical interventions [NCEBP 2], Child, Preschool, Female, sense organs, Age of onset, business, Functional Neurogenomics [DCN 2], Retinitis Pigmentosa

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e6d1af55cb6069c0c1c0aa157790f8Test
https://doi.org/10.1136/bjo.2008.145359Test

10

Galactose-1-phosphate uridyl transferase deficiency is not associated with Mullerian aplasia in Dutch patients

المؤلفون: Ronald J.A. Wanders, Wim N.P. Willemsen, Ron A. Wevers, Francis E. Hartog, Roel Nijland

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Journal of Pediatric and Adolescent Gynecology, 22, 229-31
Journal of pediatric and adolescent gynecology, 22(4), 229-231. Elsevier USA
Journal of Pediatric and Adolescent Gynecology, 22, 4, pp. 229-31

مصطلحات موضوعية: Adult, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Population, Urine, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Polymorphism (computer science), Pregnancy, Internal medicine, medicine, Outpatient clinic, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Family history, Young adult, education, Mullerian Ducts, Netherlands, Gynecology, education.field_of_study, business.industry, Case-control study, Obstetrics and Gynecology, Galactose, General Medicine, Syndrome, Glycostation disorders [IGMD 4], Middle Aged, medicine.disease, Human Reproduction [NCEBP 12], Endocrinology, Case-Control Studies, Pediatrics, Perinatology and Child Health, Female, business, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e30cc093e665b87d1024e1eaede7901Test
http://hdl.handle.net/2066/80664Test

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