05154nam 2200661 a 450 991043798570332120200520144314.03-642-37334-810.1007/978-3-642-37334-3(CKB)3280000000020568(EBL)1316856(SSID)ssj0000904301(PQKBManifestationID)11545181(PQKBTitleCode)TC0000904301(PQKBWorkID)10920510(PQKB)11365066(DE-He213)978-3-642-37334-3(MiAaPQ)EBC1316856(PPN)170491447(EXLCZ)99328000000002056820130603d2013 uy 0engur|n|---|||||txtccrJIMD reportsVolume 10 /Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor1st ed. 2013.Heidelberg ;New York Springer SSIEMc20131 online resource (124 p.)JIMD reports,2192-8304 ;v. 10Description based upon print version of record.3-642-37333-X Includes bibliographical references.Contents; Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates; Abstract; Introduction; Materials and Methods; Patients; Birth Prevalence; Mutation Analysis; Results; Discussion; Disclosure Statement; References; Chitotriosidase Deficiency: A Mutation Update in an African Population; Abstract; Introduction; Materials and Methods; Subjects; Methods; Plasma Chitotriosidase Assay; CHIT1 Mutation Detection; Population Screening for CHIT1 Mutations; Evaluation of Missense Mutations; Results; Plasma chito activities and CHIT1 genotyping; Discussion and ConclusionReferencesNDUFS8-related Complex I Deficiency Extends Phenotype from ``PEO Plus ́ ́ to Leigh Syndrome; Abstract; Introduction; Case Reports; Patient 1; Patient 2; Patient 3; Results; Discussion; Synopsis; Author Contribution; Funding; Ethical Issues; Competing Interest Statement; References; Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria; Abstract; Introduction; Subjects and Methods; Subjects; Data Collection; Anthropometric Calculations; Statistical Analysis; ResultsDemographics, BMI, and ADP Body CompositionMean Values and Correlations; Bland-Altman Agreement; Variation in Percent Error; Discussion; Agreement of Tested Equations with ADP Results; Adiposity in PKU and Clinical Relevance; Conclusion; Synopsis; Contributions of Individual Authors; Author Serving as Guarantor; Competing Interest Statement; Details of Funding; Details of Ethics Approval; Patient Consent Statement; References; Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease; Abstract; Introduction; Case Report; Discussion; Synopsis; ReferencesPrimary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine DeficiencyAbstract; Introduction; References; MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation; Abstract; Introduction; Financial Disclosure; References; Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases; Abstract; Introduction; Method; Participants; Child 1; Child 2; Child 3; Child 4; Measures; Procedure; Descriptive Analyses; Results; Discussion; Clinical Implications and Conclusion; ReferencesDihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case ReportAbstract; Introduction; Case Report; Biochemical Results; Discussion; Synopsis; References to Electronic Databases; References; Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case; Abstract; Introduction; Report of a Case; Disclosures and Funding; References; Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population; Abstract; Introduction; Objective; Patients and Methods; Study Population; Methods; Statistical Analysis; Results; DiscussionSynopsisJIMD 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.JIMD reports ;v. 10.Metabolism, Inborn errors ofMetabolism, Inborn errors of.616.3616.39042Zschocke Johannes291660Gibson K. Michael1758394Brown Garry1758395Morava Eva1758396Peters Verena1758397MiAaPQMiAaPQMiAaPQBOOK9910437985703321JIMD reports4196592UNINA