JIMD Reports - JIMD Reports, Volume 29
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17
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5
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Published By Springer Berlin Heidelberg

9783662532775, 9783662532782
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants

2016 ◽  
pp. 109-113 ◽  
Author(s):  
Juliette Bouchereau ◽  
Sandrine Vuillaumier Barrot ◽  
Thierry Dupré ◽  
Stuart E. H. Moore ◽  
Ruxandra Cardas ◽  
...  
Keyword(s):  
Alpha Fetoprotein ◽  
Glycosylation Profile ◽  
Abnormal Glycosylation

scholarly journals CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome

2015 ◽  
pp. 47-52 ◽  
Author(s):  
Emanuele Barca ◽  
Maoxue Tang ◽  
Giulio Kleiner ◽  
Kristin Engelstad ◽  
Salvatore DiMauro ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Common Finding ◽  
Coq10 Deficiency ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

scholarly journals Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI

2015 ◽  
pp. 53-58 ◽  
Author(s):  
Denise Rotta Ruttkay Pereira ◽  
Claudia Schweiger ◽  
Carolina F. de Souza ◽  
Simone Fagondes ◽  
Denise Manica ◽  
...  
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type Vi

scholarly journals Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

2015 ◽  
pp. 89-93 ◽  
Author(s):  
Charlotte Thiels ◽  
Martin Fleger ◽  
Martina Huemer ◽  
Richard J. Rodenburg ◽  
Frederic M. Vaz ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Clinical Presentations

scholarly journals Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis

2015 ◽  
pp. 33-38 ◽  
Author(s):  
Shanti Balasubramaniam ◽  
Barry Lewis ◽  
Lawrence Greed ◽  
David Meili ◽  
Annegret Flier ◽  
...  
Keyword(s):  
Monocarboxylate Transporter ◽  
Monocarboxylate Transporter 1

scholarly journals A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts

2015 ◽  
pp. 69-75 ◽  
Author(s):  
Ulrike Schueler ◽  
Christine Kaneski ◽  
Alan Remaley ◽  
Stephen Demosky ◽  
Nancy Dwyer ◽  
...  
Keyword(s):  
Synthetic Peptide ◽  
Apolipoprotein A1 ◽  
Peptide Mimetic

scholarly journals A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect

2015 ◽  
pp. 19-32 ◽  
Author(s):  
Jenny Bellerose ◽  
Mathilde Neugnot-Cerioli ◽  
Karine Bédard ◽  
Catherine Brunel-Guitton ◽  
Grant A. Mitchell ◽  
...  
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