نتائج البحث - "Glycostation disorders [IGMD 4]"

1

An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1)

المؤلفون: Barbara Franke, Mascha M.V.A.P. Schijvenaars, Martin den Heijer, Hans Scheffer, Marieke J H Coenen, Sita H. Vermeulen, Régine P.M. Steegers-Theunissen, Henk J. Blom

المساهمون: Laboratory Medicine, ICaR - Ischemia and repair

المصدر: Franke, B, Vermeulen, S H, Steegers-Theunissen, R P, Coenen, M J, Schijvenaars, M M V A, Scheffer, H, den Heijer, M & Blom, H J 2009, ' An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1) ', Birth Defects Research Part A-Clinical and Molecular Teratology, vol. 85, no. 3, pp. 216-226 . https://doi.org/10.1002/bdra.20556Test
Birth Defects Research Part A-Clinical and Molecular Teratology, 85, 3, pp. 216-26
Birth Defects Research Part A-Clinical and Molecular Teratology, 85(3), 216-226. Wiley-Liss Inc.
Birth Defects Research Part A-Clinical and Molecular Teratology, 85, 216-26

مصطلحات موضوعية: Embryology, Candidate gene, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Receptors, Cell Surface, Single-nucleotide polymorphism, Neuroinformatics [DCN 3], Biology, RFC1, Cobalamin, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular epidemiology [NCEBP 1], chemistry.chemical_compound, Folic Acid, Translational research [ONCOL 3], Perception and Action [DCN 1], medicine, Humans, DNA (Cytosine-5-)-Methyltransferases, Cyanocobalamin, Child, Spinal Dysraphism, Genetics, Polymorphism, Genetic, Spina bifida, Hormonal regulation [IGMD 6], Neural tube, General Medicine, Glycostation disorders [IGMD 4], Cubilin, medicine.disease, nervous system diseases, medicine.anatomical_structure, chemistry, Pediatrics, Perinatology and Child Health, Female, Functional Neurogenomics [DCN 2], Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15811c07f4242b2de0dd1e3a1b4f9484Test
https://doi.org/10.1002/bdra.20556Test

2

Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry

المؤلفون: Eva Morava, Jolein Gloerich, Maïlys Guillard, Dirk J. Lefeber, Hans J. C. T. Wessels, Ron A. Wevers

المصدر: Carbohydrate Research, 344, 1550-7
Carbohydrate Research, 344, 12, pp. 1550-7

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f73776c4cffbee8292788aa7cc9b40Test
https://hdl.handle.net/2066/80369Test

3

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

4

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

5

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

6

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

المصدر: Human Molecular Genetics, 18, 2149-65
Human Molecular Genetics, 18, 12, pp. 2149-65

مصطلحات موضوعية: Male, Energy and redox metabolism [NCMLS 4], Cell Survival, Molecular Sequence Data, Golgi Apparatus, Apoptosis, Biology, medicine.disease_cause, Cutis Laxa, Cohort Studies, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Tropoelastin, Genetics, medicine, Extracellular, Perception and Action [DCN 1], Humans, Secretion, Amino Acid Sequence, Molecular Biology, Genetics (clinical), Cells, Cultured, 030304 developmental biology, 0303 health sciences, Mutation, Cytoplasmic Vesicles, Infant, General Medicine, Articles, Golgi apparatus, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Molecular biology, Protein Transport, Proton-Translocating ATPases, Child, Preschool, symbols, biology.protein, Female, Elastin, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery, Intracellular, Cutis laxa

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c5b6cbe42b080451675843956269138Test
https://pubmed.ncbi.nlm.nih.gov/19321599Test

7

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]