Significats de recessive disorder en anglès

Fucosidosis is a rare autosomal recessive disorder resulting from a deficiency of alpha-L-fucosidase.

This autosomal recessive disorder is present in members of three consanguineous Saudi Arabian families.

We report a family with an X-linked recessive disorder characterized by muscle cramps and myalgia.

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene.

Perrault syndrome is a genetically heterogeneous recessive disorder characterized by ovarian dysgenesis and sensorineural hearing loss.

Background: The recessive disorder trimethylaminuria is caused by defects in the FMO3 gene, and may be associated with hypertension.

Congenital afibrinogenemia is a rare autosomal recessive disorder associated with an increased risk of hemorrhage, thrombosis, and obstetric complications.

Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies.

Purpose: Wilson disease, an autosomal recessive disorder of copper transport, is probably the most common inherited metabolic disorder in Korea.

Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin.

Wilson's disease is an autosomal recessive disorder of copper transport caused by mutations in the gene encoding an ATPase, ATP7B.

In humans, sulfite oxidase deficiency is an inherited recessive disorder that produces severe neonatal neurological problems that lead to early death.

Adrenoleukodystrophy (ALD) is an X-linked recessive disorder that affects mainly the nervous system white matter and the adrenal cortex.

Childhood proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder which presents as a severe, intermediate or mild condition.

Menkes disease is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase.

PC deficiency is a rare autosomal recessive disorder with three clinical presentations: an infantile form, a severe neonatal form, and a benign form.