JIMD Reports - JIMD Reports, Volume 30
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16
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Published By Springer Berlin Heidelberg

9783662536803, 9783662536810
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scholarly journals Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum

2016 ◽  
pp. 23-31
Author(s):  
P. Ruiz Sala ◽  
G. Ruijter ◽  
C. Acquaviva ◽  
A. Chabli ◽  
M. G. M. de Sain-van der Velden ◽  
...  
Keyword(s):  
Quality Assurance ◽  
External Quality Assurance ◽  
External Quality ◽  
Pilot Experience ◽  
Assurance Scheme ◽  
Quality Assurance Scheme

scholarly journals Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VI

2016 ◽  
pp. 53-57 ◽  
Author(s):  
Zeynep Tamay ◽  
Gulden Gokcay ◽  
Fatih Dilek ◽  
Mehmet Cihan Balci ◽  
Deniz Ozceker ◽  
...  
Keyword(s):  
Immediate Hypersensitivity ◽  
Mps Vi

scholarly journals ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis

2016 ◽  
pp. 33-37 ◽  
Author(s):  
Rebecca D. Ganetzky ◽  
Kaitlyn Bloom ◽  
Rebecca Ahrens-Nicklas ◽  
Andrew Edmondson ◽  
Matthew A. Deardorff ◽  
...  
Keyword(s):  
Lactic Acidosis

scholarly journals Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

2016 ◽  
pp. 73-79 ◽  
Author(s):  
Amanda Smith ◽  
◽  
Skye McBride ◽  
Julien L. Marcadier ◽  
Jean Michaud ◽  
...  
Keyword(s):  
Citrate Carrier ◽  
Neonatal Presentation

scholarly journals A New Approach for Fast Metabolic Diagnostics in CMAMMA

2016 ◽  
pp. 15-22 ◽  
Author(s):  
Monique G. M. de Sain-van der Velden ◽  
Maria van der Ham ◽  
Judith J. Jans ◽  
Gepke Visser ◽  
Hubertus C. M. T. Prinsen ◽  
...  
Keyword(s):  
New Approach

scholarly journals A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria

2016 ◽  
pp. 45-52 ◽  
Author(s):  
Berardino Porfirio ◽  
Roberta Sestini ◽  
Greta Gorelli ◽  
Miriam Cordovana ◽  
Alessandro Mannoni ◽  
...  
Keyword(s):  
Founder Effect

scholarly journals Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions

2016 ◽  
pp. 39-44 ◽  
Author(s):  
Marcus J. Miller ◽  
Bret L. Bostwick ◽  
Adam D. Kennedy ◽  
Taraka R. Donti ◽  
Qin Sun ◽  
...  
Keyword(s):  
Carnitine Supplementation ◽  
Organic Acidemias
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