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Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet α-granules resulting in typical gray platelets on peripheral smears. GPSExpand
Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.
The US Food and Drug Administration (FDA) and National Organization for Rare Disease (NORD) convened a public workshop titled "Immune Responses to Enzyme Replacement Therapies: Role of ImmuneExpand
UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.
BACKGROUND Long-chain fatty acid oxidation disorders (LC-FAOD) lead to accumulation of high concentrations of potentially toxic fatty acid intermediates. Newborn screening and early intervention haveExpand
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.
Acid Ceramidase Deficiency (Farber disease, FD) is an ultra-rare Lysosomal Storage Disorder that is poorly understood and often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). Hallmarks of FDExpand
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations
Mucopolysaccharidosis (MPS) type VI or Maroteaux‐Lamy syndrome is a very rare autosomal recessive lysosomal storage disease, caused by a deficiency of the enzyme N‐acetylgalactosamine‐4‐sulfataseExpand
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI
ObjectiveTo assess oral manifestations of 17 patients with mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome.MethodsWe performed comprehensive oral examinations in 17 patients withExpand
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose
ObjectiveMucopolysaccharidosis IVA (MPS IVA, or Morquio A syndrome) and VI (MPS VI, or Maroteaux–Lamy syndrome) are autosomal recessive lysosomal storage disorders. Skeletal abnormalities are commonExpand
Thyroid functions in children with Down's syndrome.
OBJECTIVE To evaluate thyroid function in children with Down's syndrome, and to ascertain the presence of a relationship between overt thyroid diseases and congenital anomalies. MATERIAL AND METHODExpand
The smallest teeth in the world are caused by mutations in the PCNT gene
We report a follow up study on two MOPD II Thai families with severe dental anomalies and hypoplastic alveolar bone. Striking dental anomalies comprise severe microdontia, opalescent and abnormallyExpand
Do the data really support ordering fragile X testing as a first-tier test without clinical features?
PurposeCurrent guidelines recommend first-tier chromosome microarray analysis (CMA) and fragile X syndrome (FX) testing for males with isolated intellectual disabilities/learning delay (ID/LD) andExpand