-
Sialuria is a
group of
disorders resulting in an ac****ulation of free
sialic acid. One type,
known as the
Finnish type or
Salla disease has been described...
- siálico libre:
enfermedad de
Salla (incluida su
forma infantil grave) y
sialuria". EMC - Pediatría (in Spanish). 42: 1–3. doi:10.1016/S1245-1789(07)70257-3...
- difficulties-failure to thrive-microcephaly due to ASXL3
deficiency syndrome Sialuria Skin creases,
congenital symmetric cir****ferential, 2 Smith-Magenis syndrome...
-
intellectual disability.
Salla disease (also
referred to as Finnish-type
sialuria, OMIM#604369) was
first reported as a
lysosomal storage disorder in a family...
-
Schneckenbecken dysplasia Sclerosteosis Severe X-linked
myotubular myopathy Sialuria Simpson-Golabi-Behmel
syndrome Snijders Blok-Campeau
syndrome Sotos syndrome...
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implicated in the
tumorigenicity and
metastatic behavior of
malignant cells.
Sialuria is a rare
inborn error of
metabolism characterized by
cytoplasmic ac****ulation...
- (adult)
Sialidosis type II (congenital)
Sialidosis type II (infantile)
Sialuria syndrome Simpson–Golabi–Behmel
syndrome Simpson–Golabi–Behmel syndrome...
-
phenomenon Shy–Drager
syndrome Sialadenitis Sialidosis type 1 and 3
Sialidosis Sialuria,
French type
Sickle cell
anemia Sideroblastic anemia,
autosomal Siderosis...
-
Optic atrophy RAPADILINO syndrome Retinoschisis 1, X-linked,
juvenile Sialuria,
Finnish type (Salla disease)
Tibial muscular dystrophy,
tardive Usher...
- mild form of the disease,
Salla disease (also
referred to as Finnish-type
sialuria, OMIM#604369) was
first reported as a
lysosomal storage disorder in a family...
