JIMD Reports - JIMD Reports - Case and Research Reports, 2012/1
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Published By Springer Berlin Heidelberg

9783642257513, 9783642257520
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scholarly journals Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

2011 ◽  
pp. 55-65 ◽  
Author(s):  
Andrea Zatkova ◽  
Tatiana Sedlackova ◽  
Jan Radvansky ◽  
Helena Polakova ◽  
Martina Nemethova ◽  
...  
Keyword(s):  
Mutation Database

scholarly journals Epilepsy in Biotinidase Deficiency After Biotin Treatment

2011 ◽  
pp. 75-78 ◽  
Author(s):  
Salvador Ibáñez Micó ◽  
Rosario Domingo Jiménez ◽  
Eduardo Martínez Salcedo ◽  
Helena Alarcón Martínez ◽  
Alberto Puche Mira ◽  
...  
Keyword(s):  
Biotinidase Deficiency

scholarly journals A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations

2011 ◽  
pp. 109-111 ◽  
Author(s):  
Muhammad Ali Pervaiz ◽  
Gerald Gau ◽  
Allan S. Jaffe ◽  
Amy K. Saenger ◽  
Linnea Baudhuin ◽  
...  
Keyword(s):  
Tangier Disease

scholarly journals Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome

2011 ◽  
pp. 25-28 ◽  
Author(s):  
Piotr Buda ◽  
Anna Wieteska-Klimczak ◽  
Janusz Ksiazyk ◽  
Piotr Gietka ◽  
Anna Smorczewska-Kiljan ◽  
...  
Keyword(s):  
Fabry Disease

scholarly journals Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis

2011 ◽  
pp. 99-102 ◽  
Author(s):  
Evelien Zoons ◽  
Tom J. de Koning ◽  
Nico G. G. M. Abeling ◽  
Marina A. J. Tijssen
Keyword(s):  
Iron Accumulation ◽  
Brain Iron ◽  
Adult Case

scholarly journals Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient

2011 ◽  
pp. 117-124 ◽  
Author(s):  
Maria Francisca Coutinho ◽  
Liliana da Silva Santos ◽  
Lúcia Lacerda ◽  
Sofia Quental ◽  
Flemming Wibrand ◽  
...  
Keyword(s):  
Genomic Deletion ◽  
Large Genomic Deletion ◽  
Alpha Beta
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