scholarly journals Salla disease

2018 ◽  
Author(s):  
Craig Hacking ◽  
Maxime St-Amant
Keyword(s):  
Salla Disease

scholarly journals PRENATAL DIAGNOSIS OF SALLA DISEASE (SD)

1987 ◽  
Vol 21 (4) ◽  
pp. 293A-293A
Author(s):  
Martin Renlund ◽  
Pertti Aula
Keyword(s):  
Prenatal Diagnosis ◽  
Salla Disease

First Patient With Salla Disease Confirmed by Genomic Analysis in Japan

2018 ◽  
Vol 81 ◽  
pp. 52-53
Author(s):  
Ryuki Matsuura ◽  
Shin-ichiro Hamano ◽  
Takeo Iwamoto ◽  
Kenji Shimizu ◽  
Hirofumi Ohashi
Keyword(s):  
Genomic Analysis ◽  
Salla Disease

A case of Salla disease with involvement of the cerebellar white matter

2003 ◽  
Vol 45 (2) ◽  
pp. 107-109 ◽  
Author(s):  
T. Linnankivi ◽  
T. Lönnqvist ◽  
T. Autti
Keyword(s):  
White Matter ◽  
Cerebellar White Matter ◽  
Salla Disease

Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes

1987 ◽  
Vol 28 (2) ◽  
pp. 377-384 ◽  
Author(s):  
Martin Renlund ◽  
Pertti Aula ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Sialic Acid ◽  
Prenatal Detection ◽  
Salla Disease ◽  
Free Sialic Acid

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease

2002 ◽  
Vol 61 (6) ◽  
pp. 443-447 ◽  
Author(s):  
R Biancheri ◽  
E Verbeek ◽  
A Rossi ◽  
R Gaggero ◽  
L Roccatagliata ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Storage Disease ◽  
Salla Disease ◽  
Disease Variant ◽  
Sialic Acid Storage Disease

scholarly journals Free N-Acetylneuraminic Acid in Tissues in Salla Disease and the Enzymes Involved in Its Metabolism

2005 ◽  
Vol 130 (1) ◽  
pp. 39-45 ◽  
Author(s):  
Martin RENLUND ◽  
M. Alan CHESTER ◽  
Arne LUNDBLAD ◽  
Jaakko PARKKINEN ◽  
Tom KRUSIUS
Keyword(s):  
Acetylneuraminic Acid ◽  
Salla Disease

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease

Neurology ◽  
2000 ◽  
Vol 55 (1) ◽  
pp. 99-104 ◽  
Author(s):  
T. Varho ◽  
S. Jaaskelainen ◽  
U. Tolonen ◽  
P. Sonninen ◽  
L. Vainionpaa ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Salla Disease ◽  
Clinical Variation
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