JIMD Reports - JIMD Reports, Volume 40
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15
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Published By Springer Berlin Heidelberg

9783662578797, 9783662578803
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female

2017 ◽  
pp. 17-22 ◽  
Author(s):  
Farrah Rajabi ◽  
Lance H. Rodan ◽  
Maureen M. Jonas ◽  
Janet S. Soul ◽  
Nicole J. Ullrich ◽  
...  
Keyword(s):  
Liver Failure ◽  
Ornithine Transcarbamylase ◽  
Ornithine Transcarbamylase Deficiency

scholarly journals Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion

2017 ◽  
pp. 7-9 ◽  
Author(s):  
Andrew White ◽  
Michel C. Tchan
Keyword(s):  
Clinical Suspicion

scholarly journals Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation

2017 ◽  
pp. 91-95
Author(s):  
C. Bursle ◽  
R. Weintraub ◽  
C. Ward ◽  
R. Justo ◽  
J. Cardinal ◽  
...  
Keyword(s):  
Cardiac Transplantation ◽  
Protein Deficiency ◽  
Mitochondrial Trifunctional Protein

scholarly journals Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBC

2017 ◽  
pp. 97-103 ◽  
Author(s):  
Helen Walker ◽  
Mervi Pitkanen ◽  
Yusof Rahman ◽  
Sally F. Barrington
Keyword(s):  
Brain Imaging ◽  
Tyrosinaemia Type ◽  
Tyrosinaemia Type 1

scholarly journals Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet

2017 ◽  
pp. 77-83 ◽  
Author(s):  
B. Ryder ◽  
F. Moore ◽  
A. Mitchell ◽  
S. Thompson ◽  
J. Christodoulou ◽  
...  
Keyword(s):  
High Fat ◽  
Carbohydrate Diet ◽  
Low Carbohydrate Diet ◽  
Low Carbohydrate ◽  
Modifying Effect ◽  
Disease Modifying ◽  
Fumarase Deficiency

scholarly journals Hyperphenylalaninaemias in Estonia: Genotype–Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening

2017 ◽  
pp. 39-45 ◽  
Author(s):  
Hardo Lilleväli ◽  
Karit Reinson ◽  
Kai Muru ◽  
Kristi Simenson ◽  
Ülle Murumets ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Phenotype Correlation ◽  
Patient Cohort ◽  
Genotype Phenotype Correlation ◽  
Before And After

scholarly journals Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

2017 ◽  
pp. 63-69 ◽  
Author(s):  
Erin Conboy ◽  
Filippo Vairo ◽  
Matthew Schultz ◽  
Katherine Agre ◽  
Ross Ridsdale ◽  
...  
Keyword(s):  
Clinical Features ◽  
Laboratory Values

scholarly journals Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency

2017 ◽  
pp. 47-53 ◽  
Author(s):  
Abdulrahman Obaid ◽  
Marwan Nashabat ◽  
Majid Alfadhel ◽  
Ali Alasmari ◽  
Fuad Al Mutairi ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Molecular Features ◽  
Chain Acyl ◽  
Long Chain ◽  
Saudi Patients

scholarly journals Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan

2017 ◽  
pp. 1-6 ◽  
Author(s):  
Wuh-Liang Hwu ◽  
Yin-Hsiu Chien ◽  
Ni-Chung Lee ◽  
Mei-Hsin Li
Keyword(s):  
Amino Acid ◽  
Natural History ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
History Of ◽  
Decarboxylase Deficiency

scholarly journals The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with Phenylketonuria

2017 ◽  
pp. 23-29
Author(s):  
Bozena Didycz ◽  
Magdalena Nitecka ◽  
Miroslaw Bik-Multanowski
Keyword(s):  
Visual Memory ◽  
Attention Deficits
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