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JIMD Reports, Volume 27 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 27 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (VI, 112 p. 28 illus., 14 illus. in color.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-50409-X |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion -- Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency -- Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders -- SUCLA2< Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) -- Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD) -- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles -- IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia -- Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency -- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction -- Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice -- Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 -- The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group -- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) -- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency -- Further Delineation of the ALG9-CDG Phenotype. |
| Record Nr. | UNINA-9910253870603321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 28 / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 28 / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (VI, 135 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-52847-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency -- Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate -- Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy -- The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better? -- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease -- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure -- Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease -- Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS -- Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency -- Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice -- In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease -- In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History -- Multiple, Successful Pregnancies in Pompe Disease -- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans -- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014). |
| Record Nr. | UNINA-9910253898003321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 29 / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 29 / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (116 p.) |
| Disciplina | 610 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-53278-6 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 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. |
| Record Nr. | UNINA-9910136470803321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 30 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 30 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2016.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 |
| Descrizione fisica | 1 online resource (VI, 108 p. 20 illus., 13 illus. in color.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I -- Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome -- A New Approach for Fast Metabolic Diagnostics in CMAMMA -- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum -- ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis -- Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions -- A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor -- Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions -- Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency -- Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency -- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV -- The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? -- Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures -- Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures. |
| Record Nr. | UNINA-9910149630903321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2016 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 31 / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 31 / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2017.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 |
| Descrizione fisica | 1 online resource (VI, 111 p. 20 illus., 14 illus. in color.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-54119-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents -- Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency -- Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders -- Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders -- Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease -- Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency -- Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots -- Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes -- Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency -- N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels -- Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report -- Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients -- Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency -- Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? -- Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency -- Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. |
| Record Nr. | UNINA-9910163014003321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 32 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 32 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2017.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 |
| Descrizione fisica | 1 online resource (VI, 124 p. 30 illus., 15 illus. in color.) |
| Disciplina |
611.01816
599.935 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-54385-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 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. |
| Record Nr. | UNINA-9910253929603321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 33 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 33 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2017.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 |
| Descrizione fisica | 1 online resource (VI, 110 p. 26 illus., 15 illus. in color.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-55012-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review -- Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease -- Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II -- Gastrointestinal Health in Classic Galactosemia -- Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses -- Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria -- The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency -- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency -- Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features -- Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling -- Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare Diseases -- RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) -- Erratum to: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Erratum to: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). |
| Record Nr. | UNINA-9910253932403321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 34 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 34 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2017.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 |
| Descrizione fisica | 1 online resource (VI, 115 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-55586-7 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype -- Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs -- The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014 -- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations -- Phenotype and Genotype Expansion -- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review -- Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen -- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients -- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency -- Delayed Infusion Reactions to Enzyme Replacement Therapies -- Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder -- Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria -- Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables -- Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance -- COXPD9 an Evolving Multisystem Disease -- Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis -- Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. |
| Record Nr. | UNINA-9910253922303321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 35 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 35 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2017.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 |
| Descrizione fisica | 1 online resource (VI, 117 p. 20 illus., 10 illus. in color.) |
| Disciplina |
611.01816
599.935 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-55833-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability -- Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants -- Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital -- Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature -- Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient -- Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine -- Previously Unreported Biallelic Mutation in DNAJC19:Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? -- Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience -- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening -- Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency -- Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation -- Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts -- Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria -- Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis -- Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report -- White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother -- Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother. |
| Record Nr. | UNINA-9910253939603321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 36 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 36 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2017.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 |
| Descrizione fisica | 1 online resource (VI, 120 p. 20 illus., 11 illus. in color.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-56138-7 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 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. |
| Record Nr. | UNINA-9910253955003321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
