JIMD Reports - JIMD Reports, Volume 36
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15
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Published By Springer Berlin Heidelberg

9783662561379, 9783662561386
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scholarly journals Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1

2017 ◽  
pp. 85-92 ◽  
Author(s):  
Charles Shyng ◽  
Shannon L. Macauley ◽  
Joshua T. Dearborn ◽  
Mark S. Sands
Keyword(s):  
Lysosomal Enzyme ◽  
Palmitoyl Protein Thioesterase

scholarly journals Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology

2017 ◽  
pp. 109-116 ◽  
Author(s):  
Gustavo Monteiro Viana ◽  
Cinthia Castro do Nascimento ◽  
Edgar Julian Paredes-Gamero ◽  
Vânia D’Almeida
Keyword(s):  
Cellular Homeostasis ◽  
Mps I

scholarly journals False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency

2017 ◽  
pp. 1-5 ◽  
Author(s):  
Grace Stuhrman ◽  
Stefanie J. Perez Juanazo ◽  
Kea Crivelly ◽  
Jennifer Smith ◽  
Hans Andersson ◽  
...  
Keyword(s):  
False Positive ◽  
Dehydrogenase Deficiency ◽  
Newborn Screen ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1

2017 ◽  
pp. 79-84 ◽  
Author(s):  
Evelyn M. Wong ◽  
Anna Lehman ◽  
Philip Acott ◽  
Jane Gillis ◽  
Daniel L. Metzger ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Hypogonadotropic Hypogonadism ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type

scholarly journals Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency

2017 ◽  
pp. 67-77 ◽  
Author(s):  
Kathryn E. Coakley ◽  
Eric I. Felner ◽  
Vin Tangpricha ◽  
Peter W. F. Wilson ◽  
Rani H. Singh
Keyword(s):  
Bone Turnover ◽  
Dietary Intake ◽  
Phenylalanine Hydroxylase ◽  
Hydroxylase Deficiency

scholarly journals The Spectrum of Niemann-Pick Type C Disease in Greece

2017 ◽  
pp. 41-48 ◽  
Author(s):  
Irene Mavridou ◽  
Evangelia Dimitriou ◽  
Marie T. Vanier ◽  
Lluisa Vilageliu ◽  
Daniel Grinberg ◽  
...  
Keyword(s):  
Type C ◽  
Niemann Pick

scholarly journals Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

2017 ◽  
pp. 35-40 ◽  
Author(s):  
Jan Rasmussen ◽  
David M. Hougaard ◽  
Noreen Sandhu ◽  
Katrine Fjællegaard ◽  
Poula R. Petersen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Carnitine Deficiency ◽  
Foetal Development ◽  
Primary Carnitine Deficiency
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