JIMD Reports - JIMD Reports, Volume 20
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Published By Springer Berlin Heidelberg

9783662466995, 9783662467008
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scholarly journals A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

2014 ◽  
pp. 95-101 ◽  
Author(s):  
Anna Ardissone ◽  
Eleonora Lamantea ◽  
Jade Quartararo ◽  
Cristina Dallabona ◽  
Franco Carrara ◽  
...  
Keyword(s):  
Review Of Literature

scholarly journals Tandem Duplication of Exons 1–7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype

2014 ◽  
pp. 57-63
Author(s):  
Eun-Young Choi ◽  
Keyur Patel ◽  
Marie Reine Haddad ◽  
Ling Yi ◽  
Courtney Holmes ◽  
...  
Keyword(s):  
Tandem Duplication ◽  
Menkes Disease ◽  
Disease Phenotype

scholarly journals Characterization of Variegate Porphyria Mutations Using a Minigene Approach

2014 ◽  
pp. 39-44 ◽  
Author(s):  
Barbara Xoana Granata ◽  
Marco Baralle ◽  
Laura De Conti ◽  
Victoria Parera ◽  
Maria Victoria Rossetti
Keyword(s):  
Variegate Porphyria

scholarly journals Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

2014 ◽  
pp. 113-120 ◽  
Author(s):  
Ana Marcão ◽  
María L. Couce ◽  
Célia Nogueira ◽  
Helena Fonseca ◽  
Filipa Ferreira ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Iberian Peninsula ◽  
High Frequency

scholarly journals Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

2014 ◽  
pp. 27-33 ◽  
Author(s):  
Ole Hensel ◽  
F. Hanisch ◽  
K. Stock ◽  
D. Stoevesandt ◽  
M. Deschauer ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Cerebral Arteries ◽  
And Function

scholarly journals Lack of Glibenclamide Response in a Case of Permanent Neonatal Diabetes Caused by Incomplete Inactivation of Glucokinase

2014 ◽  
pp. 21-26 ◽  
Author(s):  
Josep Oriola ◽  
Francisca Moreno ◽  
Angel Gutiérrez-Nogués ◽  
Sara León ◽  
Carmen-María García-Herrero ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes

scholarly journals Parkinsonism in Phenylketonuria: A Consequence of Dopamine Depletion?

2014 ◽  
pp. 35-38 ◽  
Author(s):  
Marieke Velema ◽  
Erik Boot ◽  
Marc Engelen ◽  
Carla Hollak
Keyword(s):  
Dopamine Depletion
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