JIMD Reports - JIMD Reports, Volume 28
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15
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Published By Springer Berlin Heidelberg

9783662528464, 9783662528471
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?

2015 ◽  
pp. 29-39 ◽  
Author(s):  
Anne Daly ◽  
S. Evans ◽  
A. Gerrard ◽  
S. Santra ◽  
S. Vijay ◽  
...  
Keyword(s):  
Tube Feeding ◽  
Nutritional Intake ◽  
Enteral Tube Feeding

scholarly journals In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

2015 ◽  
pp. 95-103 ◽  
Author(s):  
Linda van der Tol ◽  
Camiel Verhamme ◽  
Ivo N. van Schaik ◽  
Anneke J. van der Kooi ◽  
Carla E. M. Hollak ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Nerve Fibre ◽  
Small Nerve

scholarly journals Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate

2015 ◽  
pp. 11-18 ◽  
Author(s):  
Yoo Choi ◽  
Alexander B. Tuzikov ◽  
Tatyana V. Ovchinnikova ◽  
Nicolai V. Bovin ◽  
Alexey V. Pshezhetsky
Keyword(s):  
Direct Assay

scholarly journals Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

2015 ◽  
pp. 119-126 ◽  
Author(s):  
Mara Doimo ◽  
Raffaele Lopreiato ◽  
Valentina Basso ◽  
Raissa Bortolotto ◽  
Alessandra Tessa ◽  
...  
Keyword(s):  
Heterologous Expression ◽  
Heterologous Expression In Yeast

scholarly journals Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency

2015 ◽  
pp. 1-10 ◽  
Author(s):  
Jennifer Lagoutte-Renosi ◽  
Isabelle Ségalas-Milazzo ◽  
Marie Crahes ◽  
Florian Renosi ◽  
Laurence Menu-Bouaouiche ◽  
...  

scholarly journals Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)

2015 ◽  
pp. 127-135 ◽  
Author(s):  
Fatma A. Al-Jasmi ◽  
Aisha Al-Shamsi ◽  
Jozef L. Hertecant ◽  
Sania M. Al-Hamad ◽  
Abdul-Kader Souid
Keyword(s):  
Newborn Screening ◽  
United Arab Emirates ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors

scholarly journals Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

2015 ◽  
pp. 75-84 ◽  
Author(s):  
A. Strandqvist ◽  
C. Bieneck Haglind ◽  
R. H. Zetterström ◽  
A. Nemeth ◽  
U. von Döbeln ◽  
...  
Keyword(s):  
Neuropsychological Development ◽  
Hydroxyacyl Coa Dehydrogenase ◽  
Lchad Deficiency ◽  
Long Chain

scholarly journals In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History

2015 ◽  
pp. 105-110 ◽  
Author(s):  
E. Colin ◽  
M. Barth ◽  
F. Boussion ◽  
P. Latour ◽  
G. Piguet-Lacroix ◽  
...  
Keyword(s):  
Family History ◽  
In Utero ◽  
Type C ◽  
Niemann Pick

scholarly journals Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease

2015 ◽  
pp. 59-67 ◽  
Author(s):  
Divya Ajay ◽  
Erin R. McNamara ◽  
Stephanie Austin ◽  
John S. Wiener ◽  
Priya Kishnani
Keyword(s):  
Urinary Tract ◽  
Lower Urinary Tract Symptoms ◽  
Pompe Disease ◽  
Lower Urinary Tract ◽  
Urinary Tract Symptoms ◽  
Lower Urinary

scholarly journals LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

2015 ◽  
pp. 49-57 ◽  
Author(s):  
Lisa G. Riley ◽  
Joëlle Rudinger-Thirion ◽  
Klaus Schmitz-Abe ◽  
David R. Thorburn ◽  
Ryan L. Davis ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Sideroblastic Anemia
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