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JIMD Reports - Case and Research Reports, 2012/4

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Cover of 'JIMD Reports - Case and Research Reports, 2012/4'

Table of Contents

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    Book Overview
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    Chapter 128 Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency
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    Chapter 132 Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?
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    Chapter 133 Hereditary Intrinsic Factor Deficiency in Chaldeans
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    Chapter 134 JIMD Reports - Case and Research Reports, 2012/4
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    Chapter 135 Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency
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    Chapter 136 Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease
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    Chapter 138 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease
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    Chapter 140 Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer
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    Chapter 141 The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I
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    Chapter 142 Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome
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    Chapter 143 Autism Spectrum Disorder in a Child with Propionic Acidemia
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    Chapter 144 Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease
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    Chapter 145 β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype
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    Chapter 146 In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography
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    Chapter 153 A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epimerase (GALE)
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    Chapter 154 Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease
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    Chapter 156 High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase
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    Chapter 157 Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU
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    Chapter 158 Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients
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    Chapter 166 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase ( OPLAH) Missense Changes
Attention for Chapter 142: Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome
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Chapter title
Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome
Chapter number 142
Book title
JIMD Reports - Case and Research Reports, 2012/4
Published in
JIMD Reports, April 2012
DOI 10.1007/8904_2012_142
Pubmed ID
Book ISBNs
978-3-64-232441-3, 978-3-64-232442-0
Authors

J. H. Paul Wilson, Maarten Sinaasappel, Fred K. Lotgering, Janneke G. Langendonk, Wilson, J. H. Paul, Sinaasappel, Maarten, Lotgering, Fred K., Langendonk, Janneke G.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 11%
Unknown 8 89%

Demographic breakdown

Readers by professional status Count As %
Other 2 22%
Researcher 2 22%
Student > Doctoral Student 1 11%
Student > Master 1 11%
Student > Postgraduate 1 11%
Other 0 0%
Unknown 2 22%
Readers by discipline Count As %
Medicine and Dentistry 5 56%
Neuroscience 1 11%
Agricultural and Biological Sciences 1 11%
Unknown 2 22%