المؤلفون: Haanpää, Maria K, Ng, Bobby G, Gallant, Natalie M, Singh, Kathryn E, Brown, Candida, Kimonis, Virginia, Freeze, Hudson H, Muller, Eric A

المصدر: American journal of medical genetics. Part A. 179(3)

مصطلحات موضوعية: Humans, Genetic Predisposition to Disease, Mannosyltransferases, Tomography, X-Ray Computed, Magnetic Resonance Imaging, Electroencephalography, Pedigree, Glycosylation, Phenotype, Mutation, Alleles, Adolescent, Child, Preschool, Female, Male, Genetic Association Studies, Congenital Disorders of Glycosylation, Biomarkers, ALG11, CDG, GP130, LLO, intellectual disability, Clinical Research, Pediatric, Rare Diseases, Brain Disorders, Genetics, 2.1 Biological and endogenous factors, Congenital, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1t67c0d3Test

المؤلفون: Alexandra Mc Cullough, Zuzana Pakanová, Anna Hlavatá, A. Salingova, Barbara Siváková, Claudia Šebová, Jan Mucha, Marek Nemčovič, Peter Barath, Ingrid Brucknerová, Vladimir Bzduch, Dimitra-Evanthia Lekka, Jana Ziburová, Martina Skokňová, Sergej Šesták, Jana Bellová, Jana Brucknerová, Mária Ostrožlíková, Gabriela Hrčková

المصدر: American journal of medical genetics. Part A. 185(11)

مصطلحات موضوعية: Male, Slovakia, Glycosylation, Mutation, Missense, Biology, medicine.disease_cause, Genetic analysis, Asymptomatic, Mannosyltransferases, Exon, Congenital Disorders of Glycosylation, Polysaccharides, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Gene, Genetics (clinical), chemistry.chemical_classification, Mutation, Point mutation, Homozygote, Infant, Newborn, Transferrin, Infant, medicine.disease, Molecular biology, Phenotype, chemistry, Female, medicine.symptom, Congenital disorder of glycosylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2d7ec8e62bc28d3c79c3b5d3d7de33eTest
https://pubmed.ncbi.nlm.nih.gov/34467644Test

المؤلفون: Bobby G. Ng, Candida Brown, Hudson H. Freeze, Eric Muller, Kathryn E. Singh, Virginia Kimonis, Natalie M. Gallant, Maria K. Haanpää

المصدر: American journal of medical genetics. Part A. 179(3)

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycan, Glycosylation, Adolescent, 030105 genetics & heredity, Mannosyltransferases, Article, 03 medical and health sciences, Epilepsy, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), Alleles, Genetic Association Studies, biology, business.industry, Electroencephalography, medicine.disease, Phenotype, Magnetic Resonance Imaging, Pedigree, carbohydrates (lipids), 030104 developmental biology, chemistry, Inborn error of metabolism, Child, Preschool, Mutation, biology.protein, Biomarker (medicine), Female, business, Tomography, X-Ray Computed, Lipid glycosylation, Congenital disorder of glycosylation, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eacc7f5b963aa0d8295ac07be3f5dbd1Test
https://pubmed.ncbi.nlm.nih.gov/33219636Test

المؤلفون: Hesham Aldhalaan, Fowzan S. Alkuraya, Saud Alsahli, Adel A H Mahmoud, Sarah AlSubhi, Layan AlRasheed, Ali Alasmari, Majid Alfadhel, Fuad Al Mutairi, Eissa Faqeih, Hanem Abduraouf, Khalid Hundallah, Waleed Altuwaijri, Amal Alhashem, Brahim Tabarki, Abdullah Alfaifi, Saad AlShahwan

المصدر: American journal of medical genetics. Part A. 173(10)

مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Glycosylation, Adolescent, Monosaccharide Transport Proteins, Population, Saudi Arabia, Gene mutation, N-Acetylglucosaminyltransferases, Mannosyltransferases, Mixed Function Oxygenases, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Congenital Disorders of Glycosylation, Internal medicine, Genetics, medicine, Biomarkers, Tumor, Humans, education, Child, Genetics (clinical), Disease burden, Retrospective Studies, Carrier signal, education.field_of_study, business.industry, Homozygote, Infant, Membrane Proteins, medicine.disease, Large cohort, Adaptor Proteins, Vesicular Transport, 030104 developmental biology, Endocrinology, Phenotype, chemistry, Severe phenotype, Child, Preschool, Mutation, Female, business, Congenital disorder of glycosylation, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::878c1459ac029a53cb448d6428b2f2f6Test
https://pubmed.ncbi.nlm.nih.gov/28742265Test

المؤلفون: Craig Baker, William B. Rizzo, Eric T. Rush

المصدر: American journal of medical genetics. Part A. 173(9)

مصطلحات موضوعية: 0301 basic medicine, Cardiomyopathy, Dilated, Glycosylation, Dolichol Kinase Deficiency, Compound heterozygosity, 03 medical and health sciences, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Genetics, medicine, Humans, Gene, Genetics (clinical), Dolichol kinase, Chemistry, Ichthyosis, Siblings, Infant, Newborn, Infant, Lipid metabolism, medicine.disease, Lipid Metabolism, Phenotype, Molecular biology, Phosphotransferases (Alcohol Group Acceptor), 030104 developmental biology, Biochemistry, Mutation, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57fddfb776989f75bdbc80016c4e3468Test
https://pubmed.ncbi.nlm.nih.gov/28816422Test

المؤلفون: Jaak Jaeken

المصدر: American journal of medical genetics. Part A. (11)

مصطلحات موضوعية: Congenital Disorders of Glycosylation, business.industry, Genetics, Medicine, Humans, Computational biology, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6d7614fef7d3dab1d9f6e152c7592a9Test
https://pubmed.ncbi.nlm.nih.gov/22105986Test

المؤلفون: Brian F. Meyer, Anas M. Alazami, Mais Hashem, Dorota Monies, Fatema Alzahrani, Mustafa A. Salih, Fowzan S. Alkuraya

المصدر: American journal of medical genetics. Part A. (1)

مصطلحات موضوعية: Genetics, business.industry, medicine.disease, N-Acetylglucosaminyltransferases, Bone Diseases, Metabolic, Congenital Disorders of Glycosylation, Inborn error of metabolism, Mutation, medicine, Humans, Chromosomes, Human, Pair 6, business, Congenital disorder of glycosylation, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0580a02510474023a3354e74e2c98d80Test
https://pubmed.ncbi.nlm.nih.gov/23023920Test

المؤلفون: Mario Zappia, Agata Fiumara, Rita Barone, Vito Sofia, Antonella Ignoto, Giovanni Sorge, Domenico Garozzo, Luisa Sturiale

المصدر: American journal of medical genetics. Part A 146A (2008): 2103–2108. doi:10.1002/ajmg.a.32446
info:cnr-pdr/source/autori:R.Barone, L.Sturiale, V.Sofia, A.Ignoto, A.Fiumara, G.Sorge, D.Garozzo, M.Zappia/titolo:Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia/doi:10.1002%2Fajmg.a.32446/rivista:American journal of medical genetics. Part A/anno:2008/pagina_da:2103/pagina_a:2108/intervallo_pagine:2103–2108/volume:146A

مصطلحات موضوعية: Adult, Male, Glycosylation, macromolecular substances, Biology, medicine.disease_cause, glycosylation analysis, chemistry.chemical_compound, congenital disorder of glycosylation, Congenital Disorders of Glycosylation, Polysaccharides, Genetics, medicine, Humans, Genetics (clinical), PMM2 mutations, Glycoproteins, chemistry.chemical_classification, Mutation, Siblings, Genetic disorder, Transferrin, clinical phenotype, medicine.disease, Phenotype, chemistry, Phosphotransferases (Phosphomutases), Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, alpha 1-Antitrypsin, Immunology, Allelic heterogeneity, CDG, Glycoprotein, Congenital disorder of glycosylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb7159efde29c41766702e5d59cd7c9bTest
https://pubmed.ncbi.nlm.nih.gov/18629883Test

المؤلفون: Erik A. Eklund, Hudson H. Freeze, Donna M. Krasnewich, Liangwu Sun, Christian Kranz, Janet R. Casey

المصدر: American journal of medical genetics. Part A. (13)

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Microcephaly, Heterozygote, DNA, Complementary, Glycosylation, DNA Mutational Analysis, macromolecular substances, Biology, Compound heterozygosity, Blindness, Mannosyltransferases, Diagnosis, Differential, Congenital Disorders of Glycosylation, Seizures, Internal medicine, Genetics, medicine, Humans, Sibling, Child, Genetics (clinical), chemistry.chemical_classification, Point mutation, Siblings, Genetic Complementation Test, medicine.disease, Endocrinology, Phenotype, chemistry, Failure to thrive, Mutation (genetic algorithm), Mutation, Muscle Hypotonia, Female, medicine.symptom, Glycoprotein, Congenital disorder of glycosylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb892df3116c17b13e61f33e71f37e79Test
https://pubmed.ncbi.nlm.nih.gov/17551933Test

المؤلفون: Els Schollen, Thierry Hennet, Joe T.R. Clarke, Gert Matthijs, Anne M. Griffiths, Claudia E. Grubenmann, Christian Frank, Christine Neupert, Markus Aebi, Michael M. Weinstein, Nicola K. Poplawski, L.E. Seargeant

المصدر: American journal of medical genetics. Part A. 136(2)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycosylation, Hepatosplenomegaly, Cathepsin A, Saccharomyces cerevisiae, Biology, Mannosyltransferases, Congenital Disorders of Glycosylation, Seizures, Internal medicine, Genetics, medicine, Humans, Genetics (clinical), Psychomotor retardation, Genetic Complementation Test, Infant, medicine.disease, Hypotonia, Endocrinology, Phenotype, Failure to thrive, Mutation, Mutation testing, Muscle Hypotonia, Female, medicine.symptom, Lipodystrophy, Psychomotor Disorders, Psychomotor disorder, Congenital disorder of glycosylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99e545d5c158547ebbfa09fff82ee53aTest
https://pubmed.ncbi.nlm.nih.gov/15945070Test