Linked e-resources
Details
Table of Contents
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
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
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
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
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
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
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
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
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