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المؤلفون: Marjo S. van der Knaap, Aad Verrips, Keith Van Haren, Irene C. Huffnagel, Aaron Carlson, Marc Engelen
المساهمون: Functional Genomics, Paediatric Neurology, Neurology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Pediatric surgery
المصدر: Carlson, A M, Huffnagel, I C, Verrips, A, van der Knaap, M S, Engelen, M & Van Haren, K 2021, ' Five men with arresting and relapsing cerebral adrenoleukodystrophy ', Journal of Neurology, vol. 268, no. 3, pp. 936-940 . https://doi.org/10.1007/s00415-020-10225-7
J Neurol
Journal of Neurology, 268(3), 936-940. D. Steinkopff-Verlag
Journal of neurology, 268(3), 936-940. D. Steinkopff-Verlagمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Peroxisomal disorders, Neurology, medicine.medical_treatment, Disease, Hematopoietic stem cell transplantation, Article, Leukoencephalopathy, 03 medical and health sciences, Hematopoietic stem-cell transplantation, 0302 clinical medicine, Recurrence, Peroxisomal disorder, Humans, Medicine, 030212 general & internal medicine, Adrenoleukodystrophy, Neuroradiology, business.industry, Hematopoietic Stem Cell Transplantation, Adrenoleukodystrophy/genetics, medicine.disease, Demyelinating diseases, Transplantation, Phenotype, ALD (adrenoleukodystrophy), Neurology (clinical), business, 030217 neurology & neurosurgery
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2دورية أكاديمية
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المؤلفون: Thierry Kuntzer, Jean-Marc Good, Mayte Castro Jiménez, Christel Tran, David Benninger, Isis Atallah, Andrea Superti-Furga
المصدر: Genes, Vol 12, Iss 695, p 695 (2021)
Genes, vol. 12, no. 5, pp. 695
Genesمصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Movement disorders, Deficiency syndrome, medicine.medical_treatment, Case Report, QH426-470, Cerebrotendinous Xanthomatosis, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Adrenal insufficiency, Spastic, Genetics, Medicine, X-linked adrenoleukodystrophy, next-generation sequencing (NGS), neurogenetic disorders, treatable diseases, Genetics (clinical), ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics, Adrenoleukodystrophy/diagnosis, Adrenoleukodystrophy/genetics, Adult, Carbohydrate Metabolism, Inborn Errors/diagnosis, Carbohydrate Metabolism, Inborn Errors/genetics, Cholestanetriol 26-Monooxygenase/genetics, Female, Genetic Testing/methods, Glucose Transporter Type 1/genetics, High-Throughput Nucleotide Sequencing/methods, Humans, Male, Middle Aged, Monosaccharide Transport Proteins/deficiency, Monosaccharide Transport Proteins/genetics, Sequence Analysis, DNA/methods, Xanthomatosis, Cerebrotendinous/diagnosis, Xanthomatosis, Cerebrotendinous/genetics, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency syndrome, business.industry, medicine.disease, 030104 developmental biology, Adrenoleukodystrophy, medicine.symptom, business, 030217 neurology & neurosurgery, Ketogenic diet
وصف الملف: application/pdf
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المصدر: JMR. Journal of molecular recognition, Vol. 18, No 3 (2005) pp. 254-261
مصطلحات موضوعية: Adult, Male, T cell, Receptors, Antigen, T-Cell, alpha-beta, T-Lymphocytes, Molecular Sequence Data, Adrenoleukodystrophy / immunology, Gene Dosage, chemical and pharmacologic phenomena, Biology, Receptors, Antigen, T-Cell, alpha-beta / immunology, Gene dosage, Polymerase Chain Reaction, Antigen, Structural Biology, Complementary DNA, Sequence Homology, Nucleic Acid, medicine, Humans, Adrenoleukodystrophy, Molecular Biology, Receptors, Antigen, T-Cell, alpha-beta / genetics, Base Sequence, Multiple sclerosis, T-Lymphocytes / immunology, T-cell receptor, hemic and immune systems, Adrenoleukodystrophy / genetics, medicine.disease, Phenotype, ddc:616.8, Blotting, Southern, medicine.anatomical_structure, Immunology, Female, Adrenoleukodystrophy / cerebrospinal fluid, T-Lymphocytes / metabolism
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5دورية أكاديمية
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6مورد إلكتروني
المصدر: Biochimica et Biophysica Acta, 1517
مصطلحات الفهرس: Biologie moléculaire, 3' Untranslated Regions -- chemistry, 5' Untranslated Regions -- chemistry, ATP-Binding Cassette Transporters, Adrenoleukodystrophy -- genetics, Amino Acid Sequence, Animals, Base Sequence, Brain -- metabolism, Chromosome Mapping, Cloning, Molecular, DNA, Complementary -- biosynthesis, DNA, Complementary -- chemistry, Gene Expression Regulation, Developmental, Gene Library, Mice, Molecular Sequence Data, Procetofen, Protein Biosynthesis, Proteins -- chemistry, Proteins -- genetics, Rats, Rats, Wistar, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/17889 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL -
7مورد إلكتروني
المصدر: Biochimica et Biophysica Acta, 1517
مصطلحات الفهرس: Biologie moléculaire, 3' Untranslated Regions -- chemistry, 5' Untranslated Regions -- chemistry, ATP-Binding Cassette Transporters, Adrenoleukodystrophy -- genetics, Amino Acid Sequence, Animals, Base Sequence, Brain -- metabolism, Chromosome Mapping, Cloning, Molecular, DNA, Complementary -- biosynthesis, DNA, Complementary -- chemistry, Gene Expression Regulation, Developmental, Gene Library, Mice, Molecular Sequence Data, Procetofen, Protein Biosynthesis, Proteins -- chemistry, Proteins -- genetics, Rats, Rats, Wistar, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article
URL:
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/17889 http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
Find this article in full text from Springer Verlag.