Open Daily: 10am - 10pm | Alley door pickup 10am - 7pm 3038 Hennepin Ave Minneapolis, MN
612-822-4611

  • Open Daily: 10am - 10pm
    Alley-side Pickup: 10am - 7pm

    3038 Hennepin Ave Minneapolis, MN
    612-822-4611

Open Daily: 10am - 10pm | Alley-side Pickup: 10am - 7pm
3038 Hennepin Ave Minneapolis, MN
612-822-4611
Jimd Reports, Volume 34

Jimd Reports, Volume 34

Morava, Eva
Patterson, Marc
Baumgartner, Matthias

Paperback

Series: Jimd Reports, Book 34

Medical Reference

ISBN10: 3662555859
ISBN13: 9783662555859
Publisher: Springer
Published: Jul 24 2017
Pages: 115
Weight: 0.65
Height: 0.26 Width: 8.25 Depth: 11.00
Language: English
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.- Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.- The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations.- Phenotype and Genotype Expansion.- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.- Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients.- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.- Delayed Infusion Reactions to Enzyme Replacement Therapies.- Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.- Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria.- Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables.- Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance.- COXPD9 an Evolving Multisystem Disease.- Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis.- Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

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