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JIMD Reports - Case and Research Reports, 2011/1

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Cover of 'JIMD Reports - Case and Research Reports, 2011/1'

Table of Contents

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    Book Overview
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    Chapter 8 Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors
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    Chapter 9 Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians
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    Chapter 10 Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease
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    Chapter 11 Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1
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    Chapter 12 Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders
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    Chapter 13 First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance
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    Chapter 14 Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease
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    Chapter 15 Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance
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    Chapter 16 Outcomes of Phenylketonuria with Relevance to Follow-Up
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    Chapter 17 Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase
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    Chapter 18 Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?
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    Chapter 19 Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Northeastern Brazil): A Cross-Sectional Study
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    Chapter 20 Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease
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    Chapter 21 Favorable Long-Term Outcome Following Severe Neonatal Hyperammonemic Coma in a Patient with Argininosuccinate Synthetase Deficiency
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    Chapter 22 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene
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    Chapter 23 Perioperative Management of Hemostasis for Surgery of Benign Hepatic Adenomas in Patients with Glycogen Storage Disease Type Ia
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    Chapter 24 Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential
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    Chapter 25 Utility of Rare Disease Registries in Latin America
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    Chapter 26 The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations
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    Chapter 27 Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue
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    Chapter 28 Relevance of Expanded Neonatal Screening of Medium-Chain Acyl Co-A Dehydrogenase Deficiency: Outcome of a Decade in Galicia (Spain)
Attention for Chapter 18: Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?
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Chapter title
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?
Chapter number 18
Book title
JIMD Reports - Case and Research Reports, 2011/1
Published in
JIMD Reports, June 2011
DOI 10.1007/8904_2011_18
Pubmed ID
23430830
Book ISBNs
978-3-64-217707-1, 978-3-64-217708-8
Authors

M. B. Bistué Millón, M. A. Delgado, N. B. Azar, N. Guelbert, L. Sturiale, D. Garozzo, G. Matthijs, J. Jaeken, Raquel Dodelson de Kremer, C. G. Asteggiano, Millón, M. B. Bistué, Delgado, M. A., Azar, N. B., Guelbert, N., Sturiale, L., Garozzo, D., Matthijs, G., Jaeken, J., de Kremer, Raquel Dodelson, Asteggiano, C. G.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 27%
Researcher 3 20%
Professor 3 20%
Student > Bachelor 1 7%
Student > Master 1 7%
Other 1 7%
Unknown 2 13%
Readers by discipline Count As %
Agricultural and Biological Sciences 7 47%
Biochemistry, Genetics and Molecular Biology 3 20%
Chemistry 1 7%
Unknown 4 27%

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