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 32

Jimd Reports, Volume 32

Morava, Eva
Patterson, Marc
Baumgartner, Matthias

Paperback

Series: Jimd Reports, Book 32

Medical Reference

ISBN10: 3662543842
ISBN13: 9783662543849
Publisher: Springer
Published: Mar 10 2017
Pages: 124
Weight: 0.69
Height: 0.28 Width: 8.25 Depth: 11.00
Language: English
Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.- Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.- Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study.- Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.- Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles.- Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis.- The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease.- Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants.- A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria.- Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.- Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.- Management of an LCHADD Patient During Pregnancy and High Intensity Exercise.- Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy.- Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.- Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

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