JIMD Reports - JIMD Reports, Volume 26
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Published By Springer Berlin Heidelberg

9783662498323, 9783662498330
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scholarly journals News on Clinical Details and Treatment in PGM1-CDG

2015 ◽  
pp. 77-84 ◽  
Author(s):  
Esther Schrapers ◽  
Laura C. Tegtmeyer ◽  
Gunter Simic-Schleicher ◽  
Volker Debus ◽  
Janine Reunert ◽  
...  

scholarly journals Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

2015 ◽  
pp. 7-12 ◽  
Author(s):  
Beyhan Tuysuz ◽  
Davut Pehlivan ◽  
Ahmet Özkök ◽  
Shalini Jhangiani ◽  
Cengiz Yalcinkaya ◽  
...  
Keyword(s):  
Congenital Disorder ◽  
Null Mutation ◽  
Congenital Disorder Of Glycosylation

scholarly journals Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review

2015 ◽  
pp. 91-97 ◽  
Author(s):  
J. Hatch ◽  
D. Coman ◽  
P. Clayton ◽  
P. Mills ◽  
S. Calvert ◽  
...  
Keyword(s):  
Literature Review ◽  
Case Series ◽  
Neurodevelopmental Outcomes

scholarly journals Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity

2015 ◽  
pp. 61-68 ◽  
Author(s):  
A. Ahmed ◽  
K. Rudser ◽  
A. Kunin-Batson ◽  
K. Delaney ◽  
C. Whitley ◽  
...  
Keyword(s):  
Symptom Score ◽  
Reliability And Validity ◽  
Physical Symptom

scholarly journals Friedreich Ataxia in Classical Galactosaemia

2015 ◽  
pp. 1-5 ◽  
Author(s):  
Siobhán Neville ◽  
Siobhan O’Sullivan ◽  
Bronagh Sweeney ◽  
Bryan Lynch ◽  
Donncha Hanrahan ◽  
...  
Keyword(s):  
Friedreich Ataxia ◽  
Classical Galactosaemia

scholarly journals Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

2015 ◽  
pp. 13-19 ◽  
Author(s):  
Jillian P. Casey ◽  
Ellen Crushell ◽  
Kyle Thompson ◽  
Eilish Twomey ◽  
Langping He ◽  
...  
Keyword(s):  
Clinical Spectrum

scholarly journals Causes of Death in Adults with Mitochondrial Disease

2015 ◽  
pp. 103-113 ◽  
Author(s):  
Marlieke Barends ◽  
Lotte Verschuren ◽  
Eva Morava ◽  
Victoria Nesbitt ◽  
Doug Turnbull ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Causes Of Death

scholarly journals Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

2015 ◽  
pp. 53-60 ◽  
Author(s):  
Maria João Nabais Sá ◽  
Júlio C. Rocha ◽  
Manuela F. Almeida ◽  
Carla Carmona ◽  
Esmeralda Martins ◽  
...  
Keyword(s):  
Phytanic Acid ◽  
Dietary Treatment ◽  
Refsum Disease ◽  
Infantile Refsum Disease

scholarly journals Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology

2015 ◽  
pp. 99-102 ◽  
Author(s):  
Thabata Caroline da Rocha Siqueira ◽  
Carolina Fischinger Moura de Souza ◽  
Paulo Lompa ◽  
Mercedes Picarelli ◽  
Ilóite Scheibel ◽  
...  
Keyword(s):  
Unknown Etiology

scholarly journals Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

2015 ◽  
pp. 37-43 ◽  
Author(s):  
Piero Farruggia ◽  
Andrea Di Cataldo ◽  
Rita M. Pinto ◽  
Elena Palmisani ◽  
Alessandra Macaluso ◽  
...  
Keyword(s):  
Cohort Study ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Study Group ◽  
Pearson Syndrome
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