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" JIMD reports. "
Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
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BL
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| Record Number
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883155
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| Title & Author
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JIMD reports.\ Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
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| Publication Statement
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Berlin, Germany :: Springer,, 2019.
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| Series Statement
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JIMD reports,; volume 45
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1 online resource
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| ISBN
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3662586479
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: 3662586487
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: 9783662586471
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: 9783662586488
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3662586460
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9783662586464
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| Contents
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Intro; Contents; I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Conseq ... ; Abstract; Background; Methods and Inclusion Criteria; Results; Baseline Data; Diagnosis; Age at Diagnosis; Presenting Features (See Table 2); Ethnicity; Birth; Genetics; Airway/Anaesthetic and Respiratory Issues; Cardiac Issues; Feeding Issues; ENT Manifestations of Disease and Treatment; Teams Involved in Patient Care; Discussion; Airway Issues; Respiratory Issues; Cardiac Issues; Gastroenterological Issues; Phenotypic Variations; Conclusions
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AbstractIntroduction; Case Report; Methods; Cell Culturing; Quantification of Cellular Flavin Content and Measurement of FAD Synthesis Rate; Western Blotting; Results; Flavin Content and FAD Synthesis Rate in Fibroblasts; FADS and Flavoenzyme Protein Levels in Fibroblasts; Discussion; Key Message; Author Contributions; Corresponding Author; Conflict of Interest; Acknowledgments and Funding; Compliance with Ethical Standards; References; The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism; Abstract; Introduction; Methods
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IntroductionMaterials and Methods; Statistical Methods; Results; Patient Characteristics; Propionic Acidemia (n = 5) and Citrullinemia Type 1 (n = 3); Crigler-Najjar Syndrome Type 1 (n = 5); APOLT Procedure; Post-transplant Course; Immunosuppression Post-APOLT; Post-transplant Complications; Follow-Up; Development and Quality of Life; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contributions of Individual Authors; References; A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy
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One Sentence Take-Home MessageContributions of Individual Authors; The Authors Who Serves as Guarantor; Competing Interest; Funding; Ethics Approval and Patients Consent; References; Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases; Abstract; Introduction; Materials and Methods; Sample; Procedures; Statistical Analysis; Results; Discussion; Concise One Sentence About Manuscript; General Rules; References#x84;; Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience; Abstract
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Declarations; Ethics Approval and Consent to Participate; Consent for Publication; Availability of Data and Material; Completing Interests; Funding; Authors ́Contributions; References; Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency; Abstract; Introduction; Materials and Methods; Patients and Experimental Design; Developmental and Other Assessments; Biochemical Assays; Data Analysis and Statistics; Results; Clinical Observation; Growth; Developmental and Cognitive Evaluation; Plasma Ganglioside Levels; Discussion
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Metabolism-- Disorders.
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Metabolism, Inborn errors of.
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HEALTH FITNESS-- Diseases-- General.
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MEDICAL-- Clinical Medicine.
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MEDICAL-- Diseases.
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MEDICAL-- Evidence-Based Medicine.
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MEDICAL-- Internal Medicine.
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Metabolism-- Disorders.
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Metabolism, Inborn errors of.
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| Dewey Classification
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616.3/9042
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| LC Classification
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RC627.8
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| Added Entry
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Baumgartner, Matthias
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Morava, Eva
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Patterson, Marc
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Peters, Verena
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Rahman, Shamima
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Zschocke, Johannes
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