Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
Language
  • 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
    Signatur Availability
    BibTip Others were also interested in ...
  • 2
    Unknown
    Cambridge [England] ; New York : Cambridge University Press
    Keywords: Combustion engineering. ; Turbulence.
    Pages: xvi, 304 p.
    ISBN: 0-511-01927-0
    Signatur Availability
    BibTip Others were also interested in ...
  • 3
    Call number: YY Diss Pete/Mag
    Keywords: DKFZ-publications / academic dissertations
    Pages: 115 p.
    Signatur Availability
    YY Diss Pete/Mag departmental collection or stack – please contact the library
    BibTip Others were also interested in ...
  • 4
    Keywords: Human Genetics ; Metabolic Diseases ; Pediatrics ; Medicine ; Human Genetics ; Metabolic Diseases ; Pediatrics ; Molecular Medicine ; Springer eBooks
    Description / Table of Contents: I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease -- Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency -- Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases -- Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience -- A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy -- The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism -- Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV -- Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy -- Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1 -- Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency -- Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series -- Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency -- The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation -- Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant -- Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? -- A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 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, 110 p. 28 illus., 13 illus. in color. : online resource.
    ISBN: 9783662586471
    Signatur Availability
    BibTip Others were also interested in ...
  • 5
    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
    Signatur Availability
    BibTip Others were also interested in ...
  • 6
    Call number: C060:256
    Pages: xiv, 265 p. : ill.
    ISBN: 9780262037310
    Signatur Availability
    C060:256 departmental collection or stack – please contact the library
    BibTip Others were also interested in ...
  • 7
    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
    Signatur Availability
    BibTip Others were also interested in ...
  • 8
    Keywords: Medicine ; Human Genetics ; Molecular Biology ; Metabolic Diseases ; Pediatrics ; Biomedicine ; Human Genetics ; Metabolic Diseases ; Pediatrics ; Molecular Medicine ; Springer eBooks
    Description / Table of Contents: First Successful Conception Induced by a Male Cystinosis Patient -- Glutaric Acidemia Type 1: A Case of Infantile Stroke -- Treatment of Depression in Adults with Fabry Disease -- Mutations in GMPPB Presenting with Pseudometabolic Myopathy -- Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations -- Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism -- Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry -- Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency -- GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A -- Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice -- Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening -- Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 -- A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment -- An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia -- Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein 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. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com
    Pages: VI, 105 p. 20 illus., 7 illus. in color. : online resource.
    ISBN: 9783662566107
    Signatur Availability
    BibTip Others were also interested in ...
  • 9
    Keywords: Medicine ; Human Genetics ; Molecular Biology ; Metabolic Diseases ; Pediatrics ; Biomedicine ; Human Genetics ; Metabolic Diseases ; Pediatrics ; Molecular Medicine ; Springer eBooks
    Description / Table of Contents: Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency -- Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases -- The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients -- Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency -- Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms -- Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis -- Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat -- Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals -- Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe? -- Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers -- Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome] -- Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up -- Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment -- High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB -- Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review
    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, 116 p. 20 illus., 8 illus. in color. : online resource.
    ISBN: 9783662575772
    Signatur Availability
    BibTip Others were also interested in ...
  • 10
    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
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...