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Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error ofExpand
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Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.
PURPOSE Gaucher disease is the first lysosomal storage disorder to be treated with macrophage-targeted enzyme replacement therapy. Previous studies in relatively small numbers of patientsExpand
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The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.
BACKGROUND The Gaucher Registry, the largest database of patients with Gaucher disease (GD) worldwide, was initiated to better delineate the progressive nature of the disorder and determine optimalExpand
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Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies. Patients with desmosterolosis have elevated levels of the cholesterol precursor desmosterol, inExpand
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Guidance for risk assessment of food and feed from genetically modified plants
This document provides updated guidance for the risk assessment of food and feed containing, consisting or produced from genetically modified (GM) plants, submitted within the framework of RegulationExpand
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Eight-Year Clinical Outcomes of Long-Term Enzyme Replacement Therapy for 884 Children With Gaucher Disease Type 1
OBJECTIVE. The goal was to analyze the clinical responses to enzyme replacement therapy with alglucerase or imiglucerase in a large international cohort of children with Gaucher disease type 1.Expand
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EFSA Panel on Genetically Modified Organisms (GMO)
Soybean 305423 was developed through particle bombardment and contains gm-fad2-1 and gm-hra expression cassettes, conferring a high oleic acid profile and tolerance to acetolactate synthaseExpand
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The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis.
OBJECTIVE To describe the clinical and demographic characteristics of nonneuronopathic Gaucher disease (GD) in children at the time of diagnosis. DESIGN Longitudinal observational database of theExpand
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Individualization of long-term enzyme replacement therapy for Gaucher disease
Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous condition affecting multiple organ systems. Patients with nonneuronopathic (type 1) Gaucher disease may suffer fromExpand
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