JIMD Reports - JIMD Reports – Case and Research Reports, 2012/6
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Published By Springer Berlin Heidelberg

9783642355172, 9783642355189
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scholarly journals Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S

2012 ◽  
pp. 49-58 ◽  
Author(s):  
Maja Djordjevic ◽  
Kristel Klaassen ◽  
Adrijan Sarajlija ◽  
Natasa Tosic ◽  
Branka Zukic ◽  
...  
Keyword(s):  
Molecular Genetics

scholarly journals Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

2012 ◽  
pp. 7-16 ◽  
Author(s):  
Marina Siebert ◽  
Hugo Bock ◽  
Kristiane Michelin-Tirelli ◽  
Janice C. Coelho ◽  
Roberto Giugliani ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutations ◽  
Glucocerebrosidase Gene

scholarly journals Ceftriaxone for Alexander’s Disease: A Four-Year Follow-Up

2012 ◽  
pp. 67-71 ◽  
Author(s):  
GianPietro Sechi ◽  
Isabella Ceccherini ◽  
Tiziana Bachetti ◽  
Giovanni A. Deiana ◽  
Elia Sechi ◽  
...  
Keyword(s):  
Alexander's Disease

scholarly journals Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy

2012 ◽  
pp. 113-116 ◽  
Author(s):  
Gerarda Cappuccio ◽  
Nicola Brunetti-Pierri ◽  
Gaetano Terrone ◽  
Alfonso Romano ◽  
Generoso Andria ◽  
...  
Keyword(s):  
Low Dose ◽  
Metachromatic Leukodystrophy ◽  
Acute Dystonia

scholarly journals Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

2012 ◽  
pp. 1-5 ◽  
Author(s):  
Elsebet Ostergaard ◽  
Morten Duno ◽  
Lisbeth Birk Møller ◽  
H. Serap Kalkanoglu-Sivri ◽  
Ali Dursun ◽  
...  
Keyword(s):  
Pyruvate Carboxylase ◽  
Type B ◽  
Novel Mutations ◽  
Pyruvate Carboxylase Deficiency
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