JIMD Reports - JIMD Reports, Volume 39
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Published By Springer Berlin Heidelberg

9783662575765, 9783662575772
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

2017 ◽  
pp. 45-54 ◽  
Author(s):  
Monica H. Wojcik ◽  
Klaas J. Wierenga ◽  
Lance H. Rodan ◽  
Inderneel Sahai ◽  
Sacha Ferdinandusse ◽  
...  
Keyword(s):  
Newborn Screen ◽  
Metabolic Stroke

scholarly journals Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

2017 ◽  
pp. 89-96 ◽  
Author(s):  
Paula J. Waters ◽  
Thomas M. Kitzler ◽  
Annette Feigenbaum ◽  
Michael T. Geraghty ◽  
Osama Al-Dirbashi ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Glutaric Aciduria ◽  
Type 3

scholarly journals Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

2017 ◽  
pp. 55-62 ◽  
Author(s):  
A. Broomfield ◽  
J. Fletcher ◽  
P. Hensman ◽  
R. Wright ◽  
H. Prunty ◽  
...  
Keyword(s):  
Early Childhood ◽  
White Matter

scholarly journals Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

2017 ◽  
pp. 7-12 ◽  
Author(s):  
Emanuela Manea ◽  
Paul Gissen ◽  
Simon Pope ◽  
Simon J. Heales ◽  
Spyros Batzios

scholarly journals Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

2017 ◽  
pp. 83-87 ◽  
Author(s):  
Irene C. Huffnagel ◽  
Egbert J. W. Redeker ◽  
Liesbeth Reneman ◽  
Frédéric M. Vaz ◽  
Sacha Ferdinandusse ◽  
...  
Keyword(s):  
Mitochondrial Encephalopathy ◽  
Long Term Follow Up ◽  
Methylglutaconic Aciduria

scholarly journals Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]

2017 ◽  
pp. 75-81 ◽  
Author(s):  
Annukka Lehtonen ◽  
Stewart Rust ◽  
Simon Jones ◽  
Richard Brown ◽  
Dougal Hare
Keyword(s):  
Social Functioning
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