scholarly journals Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype

2020 ◽  
Vol 23 ◽  
pp. 100592
Author(s):  
Marina Macchiaiolo ◽  
Paola Sabrina Buonuomo ◽  
Gerarda Mastrogiorgio ◽  
Matteo Bordi ◽  
Beatrice Testa ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers

2013 ◽  
Vol 46 (18) ◽  
pp. 1899-1901 ◽  
Author(s):  
Jakub Krijt ◽  
Vaclava Skopova ◽  
Vaclava Adamkova ◽  
Renata Cermakova ◽  
Agnieszka Jurecka ◽  
...  
Keyword(s):  
False Negative ◽  
Urinary Biomarkers ◽  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

Prenatal diagnosis in adenylosuccinate lyase deficiency

2000 ◽  
Vol 20 (1) ◽  
pp. 33-36 ◽  
Author(s):  
Sandrine Marie ◽  
Jolanda W. A. M. Flipsen ◽  
Marinus Duran ◽  
Bwee Tien Poll-The ◽  
Fritz A. Beemer ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

scholarly journals MRI findings of hypomyelination in adenylosuccinate lyase deficiency

2019 ◽  
Vol 14 (2) ◽  
pp. 255-259
Author(s):  
Samar Kayfan ◽  
Rana M. Yazdani ◽  
Samantha Castillo ◽  
Kevin Wong ◽  
Jeffrey H. Miller ◽  
...  
Keyword(s):  
Mri Findings ◽  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature

2013 ◽  
Vol 45 (01) ◽  
pp. 050-055
Author(s):  
Marie Zikanova ◽  
Elżbieta Jurkiewicz ◽  
Anna Tylki-Szymańska ◽  
Agnieszka Jurecka
Keyword(s):  
Review Of The Literature ◽  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

Adenylosuccinate Lyase Deficiency: An Update

1995 ◽  
pp. 363-366 ◽  
Author(s):  
Georges Van den Berghe ◽  
Françoise Van den Bergh ◽  
M. Françoise Vincent ◽  
Jaak Jaeken
Keyword(s):  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency

2011 ◽  
Vol 27 (5) ◽  
pp. 645-649 ◽  
Author(s):  
Agnieszka Jurecka ◽  
Violetta Opoka-Winiarska ◽  
Dariusz Rokicki ◽  
Anna Tylki-Szymańska
Keyword(s):  
Severe Case ◽  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

Screening for Adenylosuccinate Lyase Deficiency: Clinical, Biochemical and Molecular Findings in Four Patients

2002 ◽  
Vol 33 (4) ◽  
pp. 186-189 ◽  
Author(s):  
M. Castro ◽  
C. Pérez-Cerdá ◽  
B. Merinero ◽  
M. J. García ◽  
J. Bernar ◽  
...  
Keyword(s):  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency
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