يعرض 1 - 10 نتائج من 10 نتيجة بحث عن '"Enzyme Deficiency"', وقت الاستعلام: 0.98s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

    المؤلفون: Chambliss, KL, Hinson, DD, Trettel, F, Jakobs, C, Gibson, KM, MALASPINA, PATRIZIA, NOVELLETTO, ANDREA

    المساهمون: Chambliss, K, Hinson, D, Trettel, F, Malaspina, P, Novelletto, A, Jakobs, C, Gibson, K

    مصطلحات موضوعية: 4 aminobutyric acid, 4 hydroxybutyric acid, succinate semialdehyde dehydrogenase, 4 aminobutyric acid metabolism, aciduria, article, autosomal recessive inheritance, controlled study, enzyme deficiency, exon, female, gene deletion, gene sequence, human, human cell, major clinical study, male, nucleotide sequence, point mutation, priority journal, RNA splicing, transcription termination, Aldehyde Oxidoreductase, Amino Acid Sequence, Base Sequence, Cells, Cultured, Consanguinity, Heterozygote Detection, Hydroxybutyrate

    العلاقة: volume:63; issue:2; firstpage:399; lastpage:408; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2108/44419Test

    الإتاحة: https://doi.org/10.1086/301964Test
    http://hdl.handle.net/2108/44419Test

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  2. 2
    Null mutations and lethal congenital form of glycogen storage disease type IV

    المؤلفون: Stefania Assereto, Margarida Maria Videira Henriques, Jildau Dilling, Isabel M. Carreira, Olinda Rebelo, Paula Garcia, Carlo Minetti, Eva Morava, Denise Cassandrini, Willem P. de Boode, Henk J. ter Laak, Luísa Diogo, Otto P. van Diggelen, Claudio Bruno

    المساهمون: Clinical Genetics

    المصدر: Biochemical & Biophysical Research Communications, 361(2), 445-450. Academic Press
    Biochemical and Biophysical Research Communications, 361, 2, pp. 445-50
    Biochemical and Biophysical Research Communications, 361, 445-50

    مصطلحات موضوعية: DNA, Complementary, Biopsy, Blotting, Western, DNA Mutational Analysis, Molecular Sequence Data, Biophysics, medicine.disease_cause, Biochemistry, Genomic disorders and inherited multi-system disorders [IGMD 3], Exon, Glycogen Storage Disease Type IV, Fatal Outcome, 1,4-alpha-Glucan Branching Enzyme, medicine, Perception and Action [DCN 1], Humans, Amino Acid Sequence, Glycogen storage disease type IV, Glycogen synthase, Muscle, Skeletal, Molecular Biology, GSK3B, Gene, Mutation, biology, Base Sequence, Intron, Infant, Newborn, Cell Biology, Exons, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Introns, Glycogen Branching Enzyme Deficiency, Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], biology.protein, Female

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9538fec0a8274be02a2386f4c97d411dTest
    https://hdl.handle.net/1765/35198Test


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  3. 3
    The Variable Presentations of Glycogen Storage Disease Type IV: A Review of Clinical, Enzymatic and Molecular Studies

    المؤلفون: Ruti Parvari, Shimon Moses

    المصدر: Current Molecular Medicine. 2:177-188

    مصطلحات موضوعية: Male, medicine.medical_specialty, DNA, Complementary, Molecular Sequence Data, Biology, Biochemistry, Glycogen Storage Disease Type IV, chemistry.chemical_compound, Exon, Polysaccharides, Pregnancy, 1,4-alpha-Glucan Branching Enzyme, Prenatal Diagnosis, Internal medicine, Glycogen branching enzyme, medicine, Animals, Humans, Amino Acid Sequence, Age of Onset, Glycogen storage disease type IV, Molecular Biology, Gene, Polymorphism, Genetic, Splice site mutation, Base Sequence, Sequence Homology, Amino Acid, Glycogen, Exons, General Medicine, Adult polyglucosan body disease, medicine.disease, Glycogen Branching Enzyme Deficiency, Disease Models, Animal, Endocrinology, chemistry, Mutation, biology.protein, Molecular Medicine, Female

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4cb8bd7cb858a76a6511e86a8c335e4Test
    https://doi.org/10.2174/1566524024605815Test


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  4. 4
    Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease

    المؤلفون: Milan Elleder, Guy T.N. Besley, Sylke Maas, Dietrich Seidel, Pia Lohse, Peter Lohse, Jean M Kirk

    المصدر: Journal of Lipid Research, Vol 41, Iss 1, Pp 23-31 (2000)

    مصطلحات موضوعية: Male, Heterozygote, Hyperlipoproteinemias, Recombinant Fusion Proteins, genotype, QD415-436, Biology, Lysosomal acid lipase deficiency, Compound heterozygosity, medicine.disease_cause, Biochemistry, Exon, Endocrinology, lipid metabolism, medicine, Lysosomal storage disease, Humans, Child, DNA Primers, Genetics, Mutation, Base Sequence, Cholesterol Ester Storage Disease, Point mutation, Wolman Disease, Cell Biology, Cholesterol ester storage disease, Exons, medicine.disease, Molecular biology, Exon skipping, lysosomal storage disease, Child, Preschool, Splenomegaly, Female, enzyme deficiency, point mutation, Polymorphism, Restriction Fragment Length, Hepatomegaly

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b283630297d6fa76351e3f4336c78f43Test
    http://www.sciencedirect.com/science/article/pii/S0022227520320708Test


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  5. 5
    No Genetic Mutation in Type II 3β-Hydroxysteroid Dehydrogenase Gene in Patients with Biochemical Evidence of Enzyme Deficiency

    المؤلفون: Kenji Fujieda, Jun Nakae, Aiko Takase, Toshihiro Tajima, Yoshikazu Nishi, Mari Murashita

    المصدر: Hormone Research. 47:49-53

    مصطلحات موضوعية: Hirsutism, endocrine system, animal structures, Enzyme deficiency, Adolescent, Endocrinology, Diabetes and Metabolism, Puberty, Precocious, Dehydrogenase, Biology, Polymerase Chain Reaction, Endocrinology, Adrenocorticotropic Hormone, Polymorphism (computer science), medicine, Humans, In patient, Beta-hydroxysteroid dehydrogenase, Mild form, Child, Gene, Polymorphism, Single-Stranded Conformational, hirsutism, DNA Primers, Base Sequence, Progesterone Reductase, Sequence Analysis, DNA, medicine.disease, Molecular biology, Mutation, Female

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd429c9bb784f88ca40559608bcc2b91Test
    https://doi.org/10.1159/000185430Test


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  6. 6
    دورية أكاديمية
    Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]

    المؤلفون: BLASI, PAOLA, CALDAROLA, SARA, NOVELLETTO, ANDREA, MALASPINA, PATRIZIA, Palmerio, F, Rizzo, C, Carrozzo, R, Gibson, K. M, Deodato, F, Cappa, M, Dionisi_Vici, C

    المساهمون: Blasi, P, Palmerio, F, Caldarola, S, Rizzo, C, Carrozzo, R, Gibson, Km, Novelletto, A, Deodato, F, Cappa, M, Dionisi_vici, C, Malaspina, P

    مصطلحات موضوعية: succinate semialdehyde dehydrogenase, brain cortex atrophy, case report, chemical analysi, clinical feature, consanguinity, disease severity, electroencephalogram, electroencephalography, enzyme deficiency, family history, female, gene location, gene mutation, genotype, human, infant, letter, molecular genetic, muscle hypotonia, phenotype, priority journal, psychomotor disorder, reverse transcription polymerase chain reaction, speech disorder, strabismu, Base Sequence, DNA, Mental Retardation, Mutation

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16542398; info:eu-repo/semantics/altIdentifier/wos/WOS:000235840300018; volume:69; issue:3; firstpage:294; lastpage:296; journal:CLINICAL GENETICS; http://hdl.handle.net/2108/37937Test; info:eu-repo/semantics/altIdentifier/scopus/http://www.scopus.com/inward/record.url?eid=2-s2.0-33644799832&partnerID=40&md5=13ffd8e8cc20db3c46e7c47d6434d830Test

    الإتاحة: https://doi.org/10.1111/j.1399-0004.2006.00579.xTest
    http://hdl.handle.net/2108/37937Test

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  7. 7
    Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]

    المؤلفون: Blasi, P, Palmerio, F, Caldarola, S, Rizzo, C, Carrozzo, R, Gibson, Km, Novelletto, A, Deodato, F, Cappa, M, Dionisi_vici, C, Malaspina, P

    مصطلحات موضوعية: Genotype, phenotype, letter, speech disorder, reverse transcription polymerase chain reaction, consanguinity, Mental Retardation, case report, Humans, succinate semialdehyde dehydrogenase, gene mutation, human, gene location, family history, muscle hypotonia, Base Sequence, brain cortex atrophy, chemical analysis, clinical feature, disease severity, electroencephalogram, electroencephalography, enzyme deficiency, female, genotype, infant, molecular genetics, priority journal, psychomotor disorder, strabismus, DNA, Female, Infant, Mutation, Phenotype, Succinate-Semialdehyde Dehydrogenase, Settore BIO/18 - Genetica

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3667::326ebdb1c436e0fb34ef7fbf9e08ce5fTest
    http://hdl.handle.net/2108/37937Test


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  8. 8
    Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

    المؤلفون: Cornelis Jakobs, Patrizia Malaspina, Andrea Novelletto, Flavia Trettel, Debra D. Hinson, Ken L. Chambliss, K. Michael Gibson

    مصطلحات موضوعية: GABA metabolism, Succinic semialdehyde dehydrogenase deficiency, Male, RNA splicing, Hydroxybutyrates, aciduria, 4 aminobutyric acid metabolism, Conserved sequence, Exon, Consanguinity, 4 aminobutyric acid, Genetics(clinical), succinate semialdehyde dehydrogenase, exon, Lymphocytes, Cells, Cultured, Genetics (clinical), Sequence Deletion, Genetics, Cultured, Reverse Transcriptase Polymerase Chain Reaction, Genetic Carrier Screening, Inborn Errors, article, autosomal recessive inheritance, Exons, Aldehyde Oxidoreductases, Recombinant Proteins, Succinate-semialdehyde dehydrogenase, female, priority journal, 4 hydroxybutyric acid, enzyme deficiency, point mutation, Succinate-Semialdehyde Dehydrogenase, Exon skipping, Research Article, Cells, Molecular Sequence Data, RNA splicing defect, gene sequence, Biology, Heterozygote Detection, Frameshift mutation, Nuclear Family, medicine, EXPRESSION, DIAGNOSIS, BRAIN, Humans, controlled study, human, Amino Acid Sequence, Gene, transcription termination, Base Sequence, gene deletion, Point mutation, human cell, nucleotide sequence, 4-Hydroxybutyric aciduria, medicine.disease, Molecular biology, major clinical study, Introns, Settore BIO/18 - Genetica, Metabolism, male, Female, Metabolism, Inborn Errors

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9d9827a8a95156573f18b9ae9f7483Test
    http://hdl.handle.net/2108/44419Test


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  9. 9
    Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene

    المؤلفون: Yong Bao, Jer-Yuarn Wu, Priya S. Kishnani, Yuan-Tsong Chen

    المصدر: The Journal of clinical investigation. 97(4)

    مصطلحات موضوعية: Molecular Sequence Data, medicine.disease_cause, Gene Expression Regulation, Enzymologic, Liver disease, Exon, Glycogen Storage Disease Type IV, 1,4-alpha-Glucan Branching Enzyme, medicine, Glycogen branching enzyme, Humans, Point Mutation, RNA, Messenger, Allele, Glycogen storage disease type IV, Alleles, DNA Primers, Sequence Deletion, Mutation, biology, Base Sequence, Point mutation, Liver Diseases, Infant, General Medicine, Neuromuscular Diseases, medicine.disease, Molecular biology, Glycogen Branching Enzyme Deficiency, Child, Preschool, biology.protein, Female, Research Article

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd967ede47c7149b201b3207f225c3eTest
    https://pubmed.ncbi.nlm.nih.gov/8613547Test


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  10. 10
    A novel deletion mutation of lactate dehydrogenase A(M) gene in fifth family with the enzyme deficiency

    المؤلفون: Masato Maekawa, Takashi Kanno, Yukio Matsuura, Masato Kltajima, Susumu Takayasu, Kayoko Sudo, Steven S.-L. Li

    المصدر: Human molecular genetics. 3(5)

    مصطلحات موضوعية: Enzyme deficiency, Adolescent, Lactate dehydrogenase A, Molecular Sequence Data, L-Lactate dehydrogenase, Biology, Polymerase Chain Reaction, Skin Diseases, Genetics, Humans, Amino Acid Sequence, education, Molecular Biology, Gene, Genetics (clinical), Sequence Deletion, chemistry.chemical_classification, education.field_of_study, Polymorphism, Genetic, Base Sequence, L-Lactate Dehydrogenase, Myoglobinuria, General Medicine, Exons, Protein Structure, Tertiary, Enzyme, chemistry, Biochemistry, Genes, Deletion mutation, Mutation (genetic algorithm), Nucleic Acid Conformation, Female, Allosteric Site

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa911587ee5c25b81c11f93d871286d8Test
    https://pubmed.ncbi.nlm.nih.gov/8081370Test


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