English
JIMD Reports, Volume 43
Overview of attention for book
Table of Contents
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Altmetric BadgeBook Overview
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Altmetric BadgeChapter 92 Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study
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Altmetric BadgeChapter 93 Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation
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Altmetric BadgeChapter 94 Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment
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Altmetric BadgeChapter 95 Serial Magnetic Resonance Imaging and 1 H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report
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Altmetric BadgeChapter 96 Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice
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Altmetric BadgeChapter 97 Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency
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Altmetric BadgeChapter 99 Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period
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Altmetric BadgeChapter 100 Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations
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Altmetric BadgeChapter 101 Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I
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Altmetric BadgeChapter 107 A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients
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Altmetric BadgeChapter 108 Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion
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Altmetric BadgeChapter 110 Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain
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Altmetric BadgeChapter 111 Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency
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Altmetric BadgeChapter 112 RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants
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Altmetric BadgeChapter 113 Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)
Attention for Chapter 113:
Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)
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In the top 25% of all research outputs scored by Altmetric
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Among the highest-scoring outputs from this source (#39 of 542)
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High Attention Score compared to outputs of the same age (81st percentile)
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High Attention Score compared to outputs of the same age and source (86th percentile)
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