JIMD Reports - JIMD Reports, Volume 14
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16
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Published By Springer Berlin Heidelberg

9783662437476, 9783662437483
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

2014 ◽  
pp. 119-119 ◽  
Author(s):  
Marni J. Falk ◽  
Dong Li ◽  
Xiaowu Gai ◽  
Elizabeth McCormick ◽  
Emily Place ◽  
...  
Keyword(s):  
Infantile Epilepsy

scholarly journals AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

2014 ◽  
pp. 77-85 ◽  
Author(s):  
Marni J. Falk ◽  
Dong Li ◽  
Xiaowu Gai ◽  
Elizabeth McCormick ◽  
Emily Place ◽  
...  
Keyword(s):  
Infantile Epilepsy

scholarly journals Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control

2014 ◽  
pp. 115-118 ◽  
Author(s):  
Genki Sugita ◽  
Hideaki Tsuyoshi ◽  
Koji Nishijima ◽  
Yoshio Yoshida
Keyword(s):  
Metabolic Control ◽  
Successful Pregnancy ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency

scholarly journals Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis

2014 ◽  
pp. 87-97 ◽  
Author(s):  
Neveen A. Soliman ◽  
Mohamed A. Elmonem ◽  
Lambertus van den Heuvel ◽  
Rehab H. Abdel Hamid ◽  
Mohamed Gamal ◽  
...  
Keyword(s):  
Nephropathic Cystinosis ◽  
Mutational Spectrum ◽  
Egyptian Patients

scholarly journals Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

2014 ◽  
pp. 99-113 ◽  
Author(s):  
Christina Lampe ◽  
Andrea Atherton ◽  
Barbara K. Burton ◽  
Maria Descartes ◽  
Roberto Giugliani ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Mucopolysaccharidosis Ii ◽  
Enzyme Replacement

scholarly journals Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study

2013 ◽  
pp. 23-27 ◽  
Author(s):  
G J G Ruijter ◽  
D A Goudriaan ◽  
A M Boer ◽  
J Van den Bosch ◽  
A T Van der Ploeg ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Feasibility Study ◽  
Small Scale ◽  
Hunter Disease

scholarly journals Danon Disease Due to a Novel LAMP2 Microduplication

2013 ◽  
pp. 11-16 ◽  
Author(s):  
Matthew A. Lines ◽  
Stacy Hewson ◽  
William Halliday ◽  
Peter J. B. Sabatini ◽  
Tracy Stockley ◽  
...  
Keyword(s):  
Danon Disease

scholarly journals Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

2013 ◽  
pp. 47-53 ◽  
Author(s):  
Annalisa Sechi ◽  
Laura Deroma ◽  
Sabrina Paci ◽  
Annunziata Lapolla ◽  
Francesca Carubbi ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Adult Patients ◽  
Type I ◽  
Italian Study

scholarly journals Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III

2013 ◽  
pp. 37-42
Author(s):  
Divair Doneda ◽  
Filippo P. Vairo ◽  
André L. Lopes ◽  
Álvaro Reischak-Oliveira ◽  
Pedro Schestatsky ◽  
...  
Keyword(s):  
Nutritional Status ◽  
Metabolic Rate ◽  
Basal Metabolic Rate ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type Iii
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