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JIMD Reports - Case and Research Reports, 2012/2

Overview of attention for book
Cover of 'JIMD Reports - Case and Research Reports, 2012/2'

Table of Contents

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    Book Overview
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    Chapter 85 Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease
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    Chapter 87 The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients
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    Chapter 88 Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience
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    Chapter 89 Molybdenum Cofactor Deficiency: A New HPLC Method for Fast Quantification of S -Sulfocysteine in Urine and Serum
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    Chapter 92 Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure
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    Chapter 93 Alkaptonuria: leading to the treasure in exceptions.
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    Chapter 96 Chaperone-Like Therapy with Tetrahydrobiopterin in Clinical Trials for Phenylketonuria: Is Genotype a Predictor of Response?
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    Chapter 99 Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy
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    Chapter 100 Successful Noninvasive Ventilation and Enzyme Replacement Therapy in an Adult Patient with Morbus Hunter
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    Chapter 101 Hyperargininemia: A Family with a Novel Mutation in an Unexpected Site
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    Chapter 103 A Rare Galactosemia Complication: Vitreous Hemorrhage
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    Chapter 104 Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease
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    Chapter 105 Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children
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    Chapter 106 Severe Infusion Reactions to Fabry Enzyme Replacement Therapy: Rechallenge After Tracheostomy
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    Chapter 107 Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1
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    Chapter 109 Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias.
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    Chapter 110 Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism
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    Chapter 111 Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient
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    Chapter 114 Expanding the Spectrum of PMM2-CDG Phenotype
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    Chapter 115 The Ketogenic Diet Is Well Tolerated and Can Be Effective in Patients with Argininosuccinate Lyase Deficiency and Refractory Epilepsy
Attention for Chapter 87: The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients
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Chapter title
The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients
Chapter number 87
Book title
JIMD Reports - Case and Research Reports, 2012/2
Published in
JIMD Reports, December 2011
DOI 10.1007/8904_2011_87
Pubmed ID
23430913
Book ISBNs
978-3-64-228095-5, 978-3-64-228096-2
Authors

Věra Malinová, Grzegorz Węgrzyn, Magdalena Narajczyk, Malinová, Věra, Węgrzyn, Grzegorz, Narajczyk, Magdalena

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 4%
Unknown 22 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 22%
Researcher 4 17%
Professor > Associate Professor 4 17%
Student > Bachelor 2 9%
Student > Doctoral Student 2 9%
Other 6 26%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 8 35%
Agricultural and Biological Sciences 4 17%
Medicine and Dentistry 2 9%
Pharmacology, Toxicology and Pharmaceutical Science 1 4%
Business, Management and Accounting 1 4%
Other 4 17%
Unknown 3 13%

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