Aspartylglucosaminuria

Known as: Deficiency, Aspartylglucosamidase, Deficiencies, AGA, Aspartylglycosaminurias 
A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme… (More)
National Institutes of Health

Related topics

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30 relations
AGA geneAcneAspartylglucosylaminaseAutosomal recessive inheritance
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Papers overview

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Highly Cited
2014
Highly Cited
2014
Magnetic, Acceleration Fields and Gyroscope Quaternion (MAGYQ)-Based Attitude Estimation with Smartphone Sensors for Indoor Pedestrian Navigation
The dependence of proposed pedestrian navigation solutions on a dedicated infrastructure is a limiting factor to the deployment… (More)
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Highly Cited
2012
Highly Cited
2012
An integrated scientific framework for child survival and early childhood development.
Building a strong foundation for healthy development in the early years of life is a prerequisite for individual well-being… (More)
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Highly Cited
2010
Highly Cited
2010
Selective translational control of the Alzheimer amyloid precursor protein transcript by iron regulatory protein-1.
Iron influx increases the translation of the Alzheimer amyloid precursor protein (APP) via an iron-responsive element (IRE) RNA… (More)
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Highly Cited
2009
Highly Cited
2009
CRITICAL EVALUATION OF PARAMETER CONSISTENCY AND PREDICTIVE UNCERTAINTY IN HYDROLOGICAL MODELLING : A CASE STUDY USING BAYESIAN TOTAL ERROR ANALYSIS
The lack of a robust framework for quantifying the parametric and predictive uncertainty of conceptual rainfall runoff (CRR… (More)
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Highly Cited
2008
Highly Cited
2008
Comparison of ER, PR and HER-2/neu (C-erb B 2) reactivity pattern with histologic grade, tumor size and lymph node status in breast cancer.
INTRODUCTION Carcinoma of the breast is the most common malignancy of women in Karachi. The current study was conducted with the… (More)
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Highly Cited
2005
Highly Cited
2005
A multifactorial intervention to reduce prevalence of delirium and shorten hospital length of stay.
OBJECTIVES To improve outcomes for cognitively impaired and delirious older adults. DESIGN Pretest, posttest. SETTING A… (More)
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Highly Cited
1999
Highly Cited
1999
Algorithms, Complexity Analysis and VLSI Architectures for MPEG-4 Motion Estimation
ion level Algorithm level high C level [Liem 97] Word level [Mira 97] Bit level [Grant 94] low ArchItecture level [Grant 94… (More)
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Review
1999
Review
1999
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis…
Over 400 patients with lysosomal and peroxisomal storage diseases have received hematopoietic stem cell transplantation from… (More)
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Highly Cited
1999
Highly Cited
1999
Effects of maternal gestational diabetes on offspring adiposity at 4-7 years of age.
OBJECTIVE The purpose of this study was to assess the long-term effects of maternal prenatal factors, including gestational… (More)
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Highly Cited
1996
Highly Cited
1996
Cognitive and neurologic development of the premature, small for gestational age infant through age 6: comparison by birth weight and gestational age.
OBJECTIVE To compare the neurologic and cognitive outcomes of 129 premature small for gestational age (SGA) infants with 300… (More)
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