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JIMD Reports, Volume 23

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Cover of 'JIMD Reports, Volume 23'

Table of Contents

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    Book Overview
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    Chapter 420 Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model
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    Chapter 422 Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa
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    Chapter 423 Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype
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    Chapter 424 The Modulatory Effects of the Polymorphisms in GLA 5′-Untranslated Region Upon Gene Expression Are Cell-Type Specific
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    Chapter 425 The Kuvan ® Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin
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    Chapter 426 Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.
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    Chapter 427 Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene
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    Chapter 428 Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency
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    Chapter 429 Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.
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    Chapter 432 Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model
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    Chapter 434 Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
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    Chapter 438 Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.
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    Chapter 439 Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
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    Chapter 440 Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity
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    Chapter 442 Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations
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