LEADER 05425nam 2200721 a 450 001 9910739419403321 005 20200520144314.0 010 $a1-283-94503-7 010 $a3-642-35518-8 024 7 $a10.1007/978-3-642-35518-9 035 $a(CKB)2670000000317638 035 $a(EBL)1106424 035 $a(OCoLC)823722460 035 $a(SSID)ssj0000811224 035 $a(PQKBManifestationID)11442085 035 $a(PQKBTitleCode)TC0000811224 035 $a(PQKBWorkID)10846854 035 $a(PQKB)10787242 035 $a(DE-He213)978-3-642-35518-9 035 $a(MiAaPQ)EBC1106424 035 $a(PPN)168328836 035 $a(EXLCZ)992670000000317638 100 $a20130111d2013 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aJIMD reports $ecase and research reports, 2012/6 /$fJohannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor 205 $a1st ed. 2013. 210 $aHeidelberg [Germany] ;$aNew York $cSpringer$d2013 215 $a1 online resource (140 p.) 225 0$aJIMD reports,$x2192-8304 ;$vv. 9 300 $aDescription based upon print version of record. 311 $a3-642-35517-X 320 $aIncludes bibliographical references. 327 $aJIMD Reports -Case and Research Reports, 2012/6; Contents; Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency; Abstract; References; Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease; Abstract; Introduction; Materials and Methods; Patients; Sample Collection and DNA Isolation; Amplification of the Entire GBA Gene; Screening of Common Mutations; PCR Amplification and Direct DNA Sequencing; Isolation of Total RNA, cDNA Synthesis, and PCR Amplification; Evaluation of Novel Mutations; Nomenclature of Mutations; Results 327 $aDiscussionSynopsis; References; Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation; Abstract; Introduction; Methods; Patients and Data Collection; Odontoi?d Dysplasia; Thoracolumbar Spine; Hip Dysplasia; Genu Valgum; Statistical Analysis; Results; Patients; Odontoi?d Hypoplasia; Thoracolumbar Kyphosis; Scoliosis; Spinal Cord Involvement; Hip Dysplasia; Genu Valgum; Correlation Between Abnormalities; Discussion; Take-Home Message; Contribution of Individual Authors; Guarantor of the Article 327 $aCompeting Interests StatementDetails of Funding; References; Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH4); Abstract; Introduction; Study Design; Subjects and Methods; Subjects; Methods; Assessment of Plasma Phe Concentrations; Assessment of Food and Nutrient Intake; Statistical Analysis; Results; Patient Characteristics; Metabolic Control and Phe Consumption; Food Consumption of BH4-Sensitive Patients; Macronutrient Intake of BH4-Sensitive Patients; Micronutrient Intake of BH4-Sensitive Patients; Discussion 327 $aTake Home MessageReferences; Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease; Abstract; Introduction; Materials and Methods; Study Design; Patients; Treatments; Data Collection and Study End Points; cMRI Technique and Analysis; Safety; Statistical Analysis; Results; Patients; Renal Function; Cardiac Functional Parameters; Quality of Life; Pain Symptoms; Tolerability; Discussion; Conclusions; Appendix; Details of the Contributions of Individual Authors; Guarantor; Competing Interest Statement; Provide Details of Funding 327 $aDetails of Ethics Approval and Patient ConsentSynopsis; References; Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S; Abstract; Introduction; Subjects and Methods; Patients and Phenotypic Classification; Molecular Genetic Analysis; Results; Genotyping; Phenotypic Characterization; Genotype-Phenotype Correlation Study; BH4 Responsiveness; Discussion; Genotype-Phenotype Inconsistencies; BH4 Responsiveness in Serbia; Synopsis; References 327 $aSubjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients 330 $a  JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. 410 0$aJIMD Reports,$x2192-8304 ;$v9 606 $aMetabolism, Inborn errors of$vCase studies 606 $aMetabolism, Inborn errors of 606 $aMetabolism$xDisorders 615 0$aMetabolism, Inborn errors of 615 0$aMetabolism, Inborn errors of. 615 0$aMetabolism$xDisorders. 676 $a600 701 $aZschocke$b Johannes$0291660 701 $aGibson$b K. Michael$01758394 701 $aBrown$b Garry$01758395 701 $aMorava$b Eva$01758396 701 $aPeters$b Verena$01758397 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910739419403321 996 $aJIMD reports$94196592 997 $aUNINA