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  • 1
    Keywords: World Trade Organization., Ministerial Conference, (5th :, 2003 :, Cancun, Mexico) ; Business. ; COMERCIALIZACION., renib ; Commercial policy. ; Commercial policy. ; Diplomatic negotiations in international disputes. ; Econometric models. ; Export subsidies. ; Free trade. ; LIBRE COMERCIO., renib ; MODELOS ECONOMETRICOS., renib ; Marketing. ; NEGOCIACIONES DIPLOMATICAS., renib ; NEGOCIOS., renib ; POLITICA COMERCIAL., renib ; POLITICA COMERCIAL., renib ; Treaties, Accession. ; Agreement on Agriculture (1994)
    Pages: vi, 46 p.
    ISBN: 1-417-57703-7
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  • 2
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    Cambridge [England] ; New York : Cambridge University Press
    Keywords: Combustion engineering. ; Turbulence.
    Pages: xvi, 304 p.
    ISBN: 0-511-01927-0
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  • 3
    Keywords: Medicine ; Human Physiology ; Metabolic Diseases ; Pediatrics ; Biomedicine ; Human Physiology ; Metabolic Diseases ; Pediatrics ; Springer eBooks
    Abstract: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder
    Pages: VI, 128 p. 30 illus., 10 illus. in color. : online resource.
    ISBN: 9783662482278
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  • 4
    Keywords: Human Genetics ; Metabolic Diseases ; Pediatrics ; Medicine ; Human Genetics ; Metabolic Diseases ; Pediatrics ; Molecular Medicine ; Springer eBooks
    Description / Table of Contents: Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study -- Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.-Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment -- Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency -- Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation -- Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice -- Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period -- Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations -- Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I -- A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients -- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion -- Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain -- Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency -- RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants -- Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)
    Abstract: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder
    Pages: VI, 124 p. 35 illus., 20 illus. in color. : online resource.
    ISBN: 9783662586143
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  • 5
    Keywords: Medicine ; Human Genetics ; Molecular Biology ; Metabolic Diseases ; Pediatrics ; Biomedicine ; Human Genetics ; Metabolic Diseases ; Pediatrics ; Molecular Medicine ; Springer eBooks
    Description / Table of Contents: Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency -- Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T〉G Mutation in Wolman Disease -- Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis -- Galactose Epimerase Deficiency: Expanding the Phenotype -- Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism -- Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation -- Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency -- Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? -- Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy -- Clinical and Molecular Variability in Patients with℗ PHKA2℗ Variants and Liver Phosphorylase b Kinase Deficiency -- Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria -- The Impact of Fabry Disease on Reproductive Fitness -- Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria -- Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU) -- Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia
    Abstract: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder
    Pages: VI, 123 p. : online resource.
    ISBN: 9783662563595
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  • 6
    Keywords: Medicine ; Human Genetics ; Molecular Biology ; Metabolic Diseases ; Pediatrics ; Biomedicine ; Human Genetics ; Metabolic Diseases ; Pediatrics ; Molecular Medicine ; Springer eBooks
    Description / Table of Contents: False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency -- Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach -- Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C -- Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS -- Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved? -- The Spectrum of Niemann-Pick Type C Disease in Greece -- What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients? -- A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica -- Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency -- Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1 -- Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1 -- Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency -- An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom -- Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology -- Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency
    Abstract: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder
    Pages: VI, 120 p. 20 illus., 11 illus. in color. : online resource.
    ISBN: 9783662561386
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  • 7
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    New York, NY : Springer Science+Business Media, LLC
    Keywords: Medicine ; Medical laboratories ; Pathology ; Medicine & Public Health ; Pathology ; Laboratory Medicine ; Springer eBooks
    Pages: : digital
    ISBN: 9781441912343
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  • 8
    Keywords: Medicine ; Human Genetics ; Molecular Biology ; Metabolic Diseases ; Pediatrics ; Biomedicine ; Human Genetics ; Metabolic Diseases ; Pediatrics ; Molecular Medicine ; Springer eBooks
    Description / Table of Contents: Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme -- Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients -- Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study -- Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings -- Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles -- Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis -- The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease -- Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants -- A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria -- Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression -- Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy -- Management of an LCHADD Patient During Pregnancy and High Intensity Exercise -- Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy -- Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias -- Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder
    Abstract: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder
    Pages: VI, 124 p. 30 illus., 15 illus. in color. : online resource.
    ISBN: 9783662543856
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  • 9
    Keywords: Medicine ; Human Genetics ; Molecular Biology ; Metabolic Diseases ; Pediatrics ; Biomedicine ; Human Genetics ; Metabolic Diseases ; Pediatrics ; Molecular Medicine ; Springer eBooks
    Description / Table of Contents: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance -- A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect -- Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis -- Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia -- CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome -- Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI -- Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain -- A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts -- Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age -- The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis -- Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? -- Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation -- Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency -- Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants -- Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Erratum to: Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency
    Abstract: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder
    Pages: VI, 113 p. 34 illus., 14 illus. in color. : online resource.
    Edition: 1st ed. 2016.
    ISBN: 9783662532782
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  • 10
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    Greenwich, Conn. : Jai Press
    Call number: QZ200:447/2
    Keywords: Breast Neoplasms ; Mammary Neoplasms, Experimental
    Pages: x, 253 p. : ill.
    ISBN: 0762301465
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