Info
Biomarkers in inborn errors of metabolism : clinical aspects and laboratory determination / / Uttam Garg, Laurie Smith
| Biomarkers in inborn errors of metabolism : clinical aspects and laboratory determination / / Uttam Garg, Laurie Smith |
| Autore | Garg Uttam |
| Pubbl/distr/stampa | Amsterdam, Netherlands ; ; Oxford, England ; ; Cambridge, Massachusetts : , : Elsevier, , 2017 |
| Descrizione fisica | 1 online resource (450 pages) : illustrations (some color) |
| Disciplina | 616.39042 |
| Collana | Clinical Aspects and Laboratory Determination of Biomarkers Series |
| Soggetto topico |
Metabolism, Inborn errors of
Diagnosis, Laboratory |
| ISBN |
0-12-802918-8
0-12-802896-3 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910583055103321 |
Garg Uttam
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| Amsterdam, Netherlands ; ; Oxford, England ; ; Cambridge, Massachusetts : , : Elsevier, , 2017 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke
| A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke |
| Autore | Clarke Joe T. R |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002 |
| Descrizione fisica | 1 online resource (307 p.) |
| Disciplina | 616.3/9042 |
| Soggetto topico |
Metabolism, Inborn errors of
Diagnosis, Differential |
| Soggetto genere / forma | Electronic books. |
| ISBN |
1-107-12616-9
1-280-15980-4 9786610159802 1-139-13040-4 0-511-12192-X 0-511-04288-4 0-511-14782-1 0-511-05466-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Cover; Half-title; Title; Copyright; Dedicaton; Contents; Preface; Foreword; 1 General principles; 2 Neurologic syndrome; 3 Metabolic acidosis; 4 Hepatic syndrome; 5 Cardiac syndromes; 6 Storage syndrome and dysmorphism; 7 Acute metabolic illness in the newborn; 8 Newborn screening; 9 Laboratory investigation; 10 Treatment; Index |
| Record Nr. | UNINA-9910450291003321 |
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Clarke Joe T. R
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| Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke
| A clinical guide to inherited metabolic diseases [[electronic resource] /] / Joe T.R. Clarke |
| Autore | Clarke Joe T. R |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002 |
| Descrizione fisica | 1 online resource (307 p.) |
| Disciplina | 616.3/9042 |
| Soggetto topico |
Metabolism, Inborn errors of
Diagnosis, Differential |
| ISBN |
1-107-12616-9
1-280-15980-4 9786610159802 1-139-13040-4 0-511-12192-X 0-511-04288-4 0-511-14782-1 0-511-05466-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Cover; Half-title; Title; Copyright; Dedicaton; Contents; Preface; Foreword; 1 General principles; 2 Neurologic syndrome; 3 Metabolic acidosis; 4 Hepatic syndrome; 5 Cardiac syndromes; 6 Storage syndrome and dysmorphism; 7 Acute metabolic illness in the newborn; 8 Newborn screening; 9 Laboratory investigation; 10 Treatment; Index |
| Record Nr. | UNINA-9910777398303321 |
|
Clarke Joe T. R
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| Cambridge, U.K. ; ; New York, : Cambridge University Press, 2002 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia
| Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia |
| Pubbl/distr/stampa | Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 |
| Descrizione fisica | 1 online resource (393 p.) |
| Disciplina | 616.3/9042 |
| Collana | Oxford Monographs on Medical Genetics |
| Soggetto topico | Metabolism, Inborn errors of |
| Soggetto genere / forma | Electronic books. |
| ISBN |
0-19-939850-X
0-19-979768-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; Series; Inborn Errors of Metabolism; Copyright; Contents; Contributors; About the Editors; Introduction; Section 1 Newborn Screening; 1 Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for Confirmation; Section 2 Pathways; 2 Human Glycosylation Disorders: Many Faces, Many Pathways; 3 Gluconeogenesis; 4 Branched Chain Amino Acid Disorders; 5 Glycolysis; 6 Urea Cycle: Ureagenesis and Non-Ureagenic Functions; 7 Fatty Acid Metabolism and Defects; 8 Mitochondrial Disorders; 9 Cholesterol, Sterols, and Isoprenoids; 10 Disorders of One-Carbon Metabolism
11 Neurotransmission and Neurotoxicity (Phenylketonuria and Dopamine)Section 3 Therapeutic Approaches; 12 Cell and Organ Transplantation for Inborn Errors of Metabolism; 13 Gene Replacement Therapy for Inborn Errors of Metabolism; 14 Enzyme Replacement and Other Therapies for the Lysosomal Storage Disorders; 15 Chaperone Therapy for the Lysosomal Storage Disorders; 16 Substrate Deprivation Therapy; Index; Colour Plate |
| Record Nr. | UNINA-9910463712803321 |
| Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia
| Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia |
| Pubbl/distr/stampa | Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 |
| Descrizione fisica | 1 online resource (393 p.) |
| Disciplina | 616.3/9042 |
| Collana | Oxford Monographs on Medical Genetics |
| Soggetto topico | Metabolism, Inborn errors of |
| ISBN |
0-19-939850-X
0-19-979768-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; Series; Inborn Errors of Metabolism; Copyright; Contents; Contributors; About the Editors; Introduction; Section 1 Newborn Screening; 1 Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for Confirmation; Section 2 Pathways; 2 Human Glycosylation Disorders: Many Faces, Many Pathways; 3 Gluconeogenesis; 4 Branched Chain Amino Acid Disorders; 5 Glycolysis; 6 Urea Cycle: Ureagenesis and Non-Ureagenic Functions; 7 Fatty Acid Metabolism and Defects; 8 Mitochondrial Disorders; 9 Cholesterol, Sterols, and Isoprenoids; 10 Disorders of One-Carbon Metabolism
11 Neurotransmission and Neurotoxicity (Phenylketonuria and Dopamine)Section 3 Therapeutic Approaches; 12 Cell and Organ Transplantation for Inborn Errors of Metabolism; 13 Gene Replacement Therapy for Inborn Errors of Metabolism; 14 Enzyme Replacement and Other Therapies for the Lysosomal Storage Disorders; 15 Chaperone Therapy for the Lysosomal Storage Disorders; 16 Substrate Deprivation Therapy; Index; Colour Plate |
| Record Nr. | UNINA-9910787948803321 |
| Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia
| Inborn errors of metabolism : from neonatal screening to metabolic pathways / / edited by Brendan H. Lee and Fernando Scaglia |
| Pubbl/distr/stampa | Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 |
| Descrizione fisica | 1 online resource (393 p.) |
| Disciplina | 616.3/9042 |
| Collana | Oxford Monographs on Medical Genetics |
| Soggetto topico | Metabolism, Inborn errors of |
| ISBN |
0-19-939850-X
0-19-979768-4 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Cover; Series; Inborn Errors of Metabolism; Copyright; Contents; Contributors; About the Editors; Introduction; Section 1 Newborn Screening; 1 Newborn Screening for Inborn Errors of Metabolism: Introduction and Approaches for Confirmation; Section 2 Pathways; 2 Human Glycosylation Disorders: Many Faces, Many Pathways; 3 Gluconeogenesis; 4 Branched Chain Amino Acid Disorders; 5 Glycolysis; 6 Urea Cycle: Ureagenesis and Non-Ureagenic Functions; 7 Fatty Acid Metabolism and Defects; 8 Mitochondrial Disorders; 9 Cholesterol, Sterols, and Isoprenoids; 10 Disorders of One-Carbon Metabolism
11 Neurotransmission and Neurotoxicity (Phenylketonuria and Dopamine)Section 3 Therapeutic Approaches; 12 Cell and Organ Transplantation for Inborn Errors of Metabolism; 13 Gene Replacement Therapy for Inborn Errors of Metabolism; 14 Enzyme Replacement and Other Therapies for the Lysosomal Storage Disorders; 15 Chaperone Therapy for the Lysosomal Storage Disorders; 16 Substrate Deprivation Therapy; Index; Colour Plate |
| Record Nr. | UNINA-9910819863403321 |
| Oxford, [England] ; ; New York, New York : , : Oxford University Press, , 2015 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Inborn metabolic diseases : diagnosis and treatment / / Jean-Marie Saudubray [and three others]
| Inborn metabolic diseases : diagnosis and treatment / / Jean-Marie Saudubray [and three others] |
| Edizione | [Seventh edition.] |
| Pubbl/distr/stampa | Berlin, Germany : , : Springer-Verlag GmbH Germany, , [2022] |
| Descrizione fisica | 1 online resource (906 pages) |
| Disciplina | 616.39042 |
| Soggetto topico | Metabolism, Inborn errors of |
| ISBN | 3-662-63123-7 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910580178803321 |
| Berlin, Germany : , : Springer-Verlag GmbH Germany, , [2022] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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JIMD Reports . Volume 17 / / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters
| JIMD Reports . Volume 17 / / edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters |
| Edizione | [1st ed. 2014.] |
| Pubbl/distr/stampa | Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 |
| Descrizione fisica | 1 online resource (95 p.) |
| Disciplina | 616.39042 |
| Collana | JIMD Reports |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism - Disorders Pediatrics Human physiology Metabolism, Inborn Errors Metabolic Diseases Human Genetics Human Physiology |
| ISBN | 3-662-44578-6 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Reversible Keratopathy Due to Hypertyrosinaemia Following Intermittent Low-Dose Nitisinone in Alkaptonuria: A Case Report / R. M. K. Stewart, M. C. Briggs, J. C. Jarvis, J. A. Gallagher, L. Ranganath -- Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment / D. Karall, G. Mair, U. Albrecht, K. Niedermayr, T. Karall, W. Schobersberger et al. -- A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus / Alessandra Zanetti, Rosella Tomanin, Angelica Rampazzo, Chiara Rigon, Nicoletta Gasparotto, Matteo Cassina et al. -- Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis / Guy Helman, Maria Belen Pappa, Phillip L. Pearl -- Antiepileptic Medications Increase Osteoporosis Risk in Male Fabry Patients: Bone Mineral Density in an Australian Cohort / Andrew Talbot, Joanna R. Ghali, Kathy Nicholls -- The Complexity of Newborn Screening Follow-Up in Phenylketonuria / Leah E. Hecht, Ann E. Wessel, Harvey L. Levy, Gerard T. Berry -- Revised Proposal for the Prevention of Low Bone Mass in Patients with Classic Galactosemia / Britt van Erven, Myrna M. M. Römers, M. Estela Rubio-Gozalbo -- Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening / Mari Mori, John R. Mytinger, Lisa C. Martin, Dennis Bartholomew, Scott Hickey -- Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey / Nesrin Karabul, Anika Skudlarek, Janine Berndt, Cornelia Kornblum, Rudolf A. Kley, Stephan Wenninger et al. -- A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV / Hayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, Burcu Berberoglu-Ates, Yusuf Aydemir, Erdal Sag et al. -- Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency / Annapurna Sudarsanam, Harry Singh, Bridget Wilcken, Michael Stormon, Susan Arbuckle, Bernhard Schmitt et al. -- Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype / Dong-Hwan Lee, Wen-Juan Qiu, Jeongho Lee, Yin-Hsiu Chien, Wuh-Liang Hwu -- Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism / Celia Atkinson, Isabelle R. Miousse, David Watkins, David S. Rosenblatt, Julian A. J. Raiman -- Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up / L. van der Tol, David Cassiman, Gunnar Houge, Mirian C. Janssen, Robin H Lachmann, Gabor E Linthorst et al. -- Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III / Alessandra Brambilla, Savina Mannarino, Roberta Pretese, Serena Gasperini, Cinzia Galimberti, Rossella Parini -- Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis / Guy Helman, Maria Belen Pappa, Phillip L. Pearl. |
| Record Nr. | UNINA-9910300350803321 |
| Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2014 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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JIMD reports : case and research reports, 2012/6 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor
| JIMD reports : case and research reports, 2012/6 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Heidelberg [Germany] ; ; New York, : Springer, 2013 |
| Descrizione fisica | 1 online resource (140 p.) |
| Disciplina | 600 |
| Altri autori (Persone) |
ZschockeJohannes
GibsonK. Michael BrownGarry MoravaEva PetersVerena |
| Collana | JIMD reports |
| Soggetto topico |
Metabolism, Inborn errors of
Metabolism - Disorders |
| ISBN |
1-283-94503-7
3-642-35518-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
JIMD 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
DiscussionSynopsis; 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; Odontoïd Dysplasia; Thoracolumbar Spine; Hip Dysplasia; Genu Valgum; Statistical Analysis; Results; Patients; Odontoïd 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 Competing 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 Take 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 Details 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 Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients |
| Record Nr. | UNINA-9910739419403321 |
| Heidelberg [Germany] ; ; New York, : Springer, 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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JIMD reports . Volume 10 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor
| JIMD reports . Volume 10 / / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor |
| Edizione | [1st ed. 2013.] |
| Pubbl/distr/stampa | Heidelberg ; ; New York, : Springer, : SSIEM, c2013 |
| Descrizione fisica | 1 online resource (124 p.) |
| Disciplina |
616.3
616.39042 |
| Altri autori (Persone) |
ZschockeJohannes
GibsonK. Michael BrownGarry MoravaEva PetersVerena |
| Collana | JIMD reports |
| Soggetto topico | Metabolism, Inborn errors of |
| ISBN | 3-642-37334-8 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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 Conclusion
ReferencesNDUFS8-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; Results Demographics, 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; References Primary 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; References Dihydropteridine 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; Discussion Synopsis |
| Record Nr. | UNINA-9910437985703321 |
| Heidelberg ; ; New York, : Springer, : SSIEM, c2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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