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" JIMD Reports. "
Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors.
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BL
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| Record Number
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882969
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JIMD Reports.\ Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors.
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| Publication Statement
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Berlin :: Springer,, 2018.
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1 online resource
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| ISBN
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3662578808
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: 9783662578803
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3662578794
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9783662578797
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| Contents
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Intro; Contents; Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan; Abstract; Introduction; Methods; Results; Demographic Data; Mutations; Growth; Motor Development; Discussion; Synopsis; Contributions of Individual Authors; Conflict of Interest; Funding; Ethics Approval; References; Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion; Abstract; Introduction; Case Description; Discussion; Synopsis; Declaration of Competing/Conflicts of Interest; References
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ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene MutationAbstract; Introduction; Case Report; Discussion; Synopsis; Author Contributions; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Funding; References; Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female; Abstract; Introduction; Clinical Report; Discussion; Synopsis; Contributions of Individual Authors; Compliance with Ethics Guidelines; References
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Description of the Patient CohortPAH Variation Distribution; Ethnical Structure of the Patient Cohort; Phenotypic Structure of Estonian HPA Patient Cohort; Possible Local Origins of P. Arg408Trp Allele Distribution; Prevalence of PAH Deficiency; Discussion; Synopsis; Author Contribution; Guarantor; Conflict of Interest; Compliance with Ethical Standards; Animal Rights; Funding; Compliance with Ethics Guidelines; References; Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency; Abstract; Background; Methods; Result
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Take Home MessageCompliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; Corresponding Author; Guarantor; Details of Funding; Details of Ethics Approval; A Patient Consent Statement; References; Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and A ... ; Abstract; Introduction; Material and Methods; Patient Group; Genealogical Survey; Prevalence Estimation; Mutation Analysis; Statistical Analysis; Results
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The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with PhenylketonuriaAbstract; Introduction; Material and Methods; Results; Discussion; Take-Home Message; Corresponding Author (the Guarantor of the Article); Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Contributions of Individual Authors; Ethics Approval; Funding; References; Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyros ... ; Abstract; Introduction; Case Report; Discussion
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| Abstract
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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.
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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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Human genetics.
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Medical genetics.
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Medical research.
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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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Medicine.
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Metabolism-- Disorders.
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Metabolism.
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Molecular biology.
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Paediatric medicine.
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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 R.
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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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