raphael-schiffmann documents

Randomized, controlled trial of miglustat in Gaucher's disease type 3
Documents Randomized, controlled trial of miglustat in Gaucher's disease type 3
Transient neonatal hyperglycinemia
Documents Transient neonatal hyperglycinemia
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
Documents Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
Enzyme replacement therapy and intraepidermal innervation density in Fabry disease
Documents Enzyme replacement therapy and intraepidermal innervation density in Fabry disease
Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement
Documents Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement
Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease
Documents Four-Year Prospective Clinical Trial of Agalsidase Alfa in Children with Fabry Disease
Fabry disease
Documents Fabry disease
A welcome introduction to leukodystrophies
Documents A welcome introduction to leukodystrophies
An autosomal recessive form of benign familial neonatal seizures
Documents An autosomal recessive form of benign familial neonatal seizures
Decreased Bone Density in Splenectomized Gaucher Patients Receiving Enzyme Replacement Therapy
Documents Decreased Bone Density in Splenectomized Gaucher Patients Receiving Enzyme Replacement Therapy
Childhood ataxia with CNS hypomyelination/vanishing white matter disease—A common leukodystrophy caused by abnormal control of protein synthesis
Documents Childhood ataxia with CNS hypomyelination/vanishing white matter disease—A common leukodystrophy caused by abnormal control of protein synthesis
27 Fabry disease—A patient and knock-out mouse study utilizing a systems biology approach
Documents 27 Fabry disease—A patient and knock-out mouse study utilizing a systems biology approach
107 Two-year oral miglustat in Gaucher disease type III
Documents 107 Two-year oral miglustat in Gaucher disease type III
122. Mucolipidosis type IV is both a developmental brain disease and a degenerative retinopathy
Documents 122. Mucolipidosis type IV is both a developmental brain disease and a degenerative retinopathy
Increased Urinary Globotriaosylceramide and Previously Undiagnosed Fabry Patients are Found in a Non-Selected Heart Disease Patient Population
Documents Increased Urinary Globotriaosylceramide and Previously Undiagnosed Fabry Patients are Found in a Non-Selected Heart Disease Patient Population