Pipecolic acidemia
http://dbpedia.org/resource/Pipecolic_acidemia an entity of type: Thing
Pipecolic acidemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect. Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA), as well as other peroxisomal disorders, including both infantile and adult Refsum disease, and Zellweger syndrome. The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
rdf:langString
rdf:langString
Pipecolic acidemia
rdf:langString
Pipecolic acidemia
rdf:langString
Pipecolic acidemia
xsd:integer
10047182
xsd:integer
1084522188
xsd:double
270.7
rdf:langString
xsd:integer
239400
rdf:langString
Hyperpipecolic acidemia or Hyperpipecolatemia
xsd:integer
216
rdf:langString
Pipecolic acidemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect. Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA), as well as other peroxisomal disorders, including both infantile and adult Refsum disease, and Zellweger syndrome. The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
xsd:string
270.7
xsd:nonNegativeInteger
2984
xsd:integer
239400