scholarly journals Teaching Video NeuroImages: Paroxysmal hyperkinesia with diurnal fluctuations due to sepiapterin-reductase deficiency

Neurology ◽  
2020 ◽  
Vol 95 (3) ◽  
pp. e332-e334
Author(s):  
Tina Mainka ◽  
Jessica Hoffmann ◽  
Andrea A. Kühn ◽  
Saskia Biskup ◽  
Christos Ganos
Keyword(s):  
Reductase Deficiency ◽  
Sepiapterin Reductase ◽  
Diurnal Fluctuations ◽  
Teaching Video

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

2015 ◽  
Vol 115 (4) ◽  
pp. 157-160 ◽  
Author(s):  
Claudia Carducci ◽  
Silvia Santagata ◽  
Jennifer Friedman ◽  
Elisabetta Pasquini ◽  
Carla Carducci ◽  
...  
Keyword(s):  
Diagnostic Marker ◽  
Reductase Deficiency ◽  
Sepiapterin Reductase

Sepiapterin reductase deficiency: Report of 5 new cases

2017 ◽  
Vol 21 (3) ◽  
pp. 583-586 ◽  
Author(s):  
Sarah AlSubhi ◽  
Saad AlShahwan ◽  
Mohamed AlMuhaizae ◽  
Hamed AlZaidan ◽  
Brahim Tabarki
Keyword(s):  
Reductase Deficiency ◽  
Sepiapterin Reductase

scholarly journals The Silkworm Mutantlemon(lemon lethal) Is a Potential Insect Model for Human Sepiapterin Reductase Deficiency

2009 ◽  
Vol 284 (17) ◽  
pp. 11698-11705 ◽  
Author(s):  
Yan Meng ◽  
Susumu Katsuma ◽  
Takaaki Daimon ◽  
Yutaka Banno ◽  
Keiro Uchino ◽  
...  
Keyword(s):  
Reductase Deficiency ◽  
Sepiapterin Reductase

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

2012 ◽  
Vol 71 (4) ◽  
pp. 520-530 ◽  
Author(s):  
Jennifer Friedman ◽  
Emmanuel Roze ◽  
Jose E. Abdenur ◽  
Richard Chang ◽  
Serena Gasperini ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Reductase Deficiency ◽  
Sepiapterin Reductase

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up

2009 ◽  
Vol 32 (S1) ◽  
pp. 5-10 ◽  
Author(s):  
K. Kusmierska ◽  
E. E. W. Jansen ◽  
C. Jakobs ◽  
K. Szymanska ◽  
E. Malunowicz ◽  
...  
Keyword(s):  
Response To Treatment ◽  
Short Term ◽  
Reductase Deficiency ◽  
Incomplete Response ◽  
Sepiapterin Reductase

Detection of Sepiapterin in CSF of Patients with Sepiapterin Reductase Deficiency

2002 ◽  
Vol 75 (2) ◽  
pp. 174-177 ◽  
Author(s):  
Giovanna Zorzi ◽  
Udo Redweik ◽  
Heike Trippe ◽  
Johann M. Penzien ◽  
Beat Thöny ◽  
...  
Keyword(s):  
Reductase Deficiency ◽  
Sepiapterin Reductase

scholarly journals Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

Brain ◽  
2005 ◽  
Vol 128 (10) ◽  
pp. 2291-2296 ◽  
Author(s):  
B. G. R. Neville ◽  
R. Parascandalo ◽  
R. Farrugia ◽  
A. Felice
Keyword(s):  
Cognitive Disorder ◽  
Reductase Deficiency ◽  
Sepiapterin Reductase
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