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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 | ||
| ||
JIMD Reports, Volume 37 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 37 [[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, 123 p.) |
| Disciplina | 575.1 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-56359-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 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. |
| Record Nr. | UNINA-9910253949803321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 38 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 38 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2018.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2018 |
| Descrizione fisica | 1 online resource (105 pages) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-56610-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 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. |
| Record Nr. | UNINA-9910298425003321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 39 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 39 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2018.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2018 |
| Descrizione fisica | 1 online resource (VI, 116 p. 20 illus., 8 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 | 3-662-57577-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 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. |
| Record Nr. | UNINA-9910298425803321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 40 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 40 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2018.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2018 |
| Descrizione fisica | 1 online resource (VI, 103 p. 20 illus., 13 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 | 3-662-57880-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan -- Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion -- ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation -- Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female -- The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria -- Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria -- Hyperphenylalaninaemias in Estonia: Genotype–Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening -- Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency -- Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers -- Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features -- Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria -- Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet -- Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood -- Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation -- Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC. |
| Record Nr. | UNINA-9910298428603321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 41 [[electronic resource] ] : Focus Issue: Adults and Metabolism / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 41 [[electronic resource] ] : Focus Issue: Adults and Metabolism / / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2018.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2018 |
| Descrizione fisica | 1 online resource (128 pages) |
| Disciplina | 616.39 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-58081-0 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment -- Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation -- Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease -- Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example -- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1 -- The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients -- Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing -- Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features -- Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study -- Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature -- Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series -- Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress -- P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years -- Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone -- Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. |
| Record Nr. | UNINA-9910298416303321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 42 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 42 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2018.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2018 |
| Descrizione fisica | 1 online resource (116 pages) : illustrations |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-58365-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis -- A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy -- Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa -- EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders -- Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair -- The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria -- Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops -- Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis -- Mitochondrial Disease in Children: The Nephrologist’s Perspective -- Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients -- Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients -- Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis -- Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12 -- Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review -- Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant. |
| Record Nr. | UNINA-9910298429603321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2018 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 43 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 43 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2019.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2019 |
| Descrizione fisica | 1 online resource (124 pages) |
| Disciplina | 573.21 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-58614-2 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 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). . |
| Record Nr. | UNINA-9910337944103321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 44 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 44 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2019.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2019 |
| Descrizione fisica | 1 online resource (119 pages) |
| Disciplina | 573.21 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-58617-7 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy -- Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency -- Sialuria: Ninth Patient Described Has a Novel Mutation in GNE -- Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy -- Psychosocial Functioning in Parents of MPS III Patients -- The Second Case of Saposin A Deficiency and Altered Autophagy -- An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study -- Demographics, Clinical Features, and Mortality of Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients -- Cobalamin D Deficiency Identified Through Newborn Screening -- Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties -- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients -- Enzyme Replacement Therapy During Pregnancy in Fabry Patients -- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia -- Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort -- Reversible Cerebral White Matter Abnormalities in Homocystinuria. |
| Record Nr. | UNINA-9910337944203321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
JIMD Reports, Volume 45 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
| JIMD Reports, Volume 45 [[electronic resource] /] / edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters |
| Edizione | [1st ed. 2019.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2019 |
| Descrizione fisica | 1 online resource (109 pages) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Human genetics
Metabolic diseases Pediatrics Molecular biology Human Genetics Metabolic Diseases Molecular Medicine |
| ISBN | 3-662-58647-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | 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. |
| Record Nr. | UNINA-9910337956403321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
