scholarly journals 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

2020 ◽  
Author(s):  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Juvenile Form ◽  
Phosphoglycerate Dehydrogenase

scholarly journals Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

2010 ◽  
Vol 34 (1) ◽  
pp. 181-184 ◽  
Author(s):  
L. Tabatabaie ◽  
L. W. J. Klomp ◽  
M. E. Rubio-Gozalbo ◽  
L. J. M. Spaapen ◽  
A. A. M. Haagen ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Clinical Spectrum ◽  
Phosphoglycerate Dehydrogenase

scholarly journals Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

2000 ◽  
Vol 67 (6) ◽  
pp. 1389-1399 ◽  
Author(s):  
Leo W.J. Klomp ◽  
Tom J. de Koning ◽  
Helga E.M. Malingré ◽  
Ellen A.C.M. van Beurden ◽  
Miny Brink ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Dehydrogenase Deficiency ◽  
Neurometabolic Disorder ◽  
Phosphoglycerate Dehydrogenase ◽  
Serine Biosynthesis

scholarly journals V490M, a Common Mutation in 3-Phosphoglycerate Dehydrogenase Deficiency, Causes Enzyme Deficiency by Decreasing the Yield of Mature Enzyme

2001 ◽  
Vol 277 (9) ◽  
pp. 7136-7143 ◽  
Author(s):  
Steven Pind ◽  
Elzbieta Slominski ◽  
Jill Mauthe ◽  
Kayla Pearlman ◽  
Kathryn J. Swoboda ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Enzyme Deficiency ◽  
Common Mutation ◽  
Mature Enzyme ◽  
Phosphoglycerate Dehydrogenase

scholarly journals Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency

2018 ◽  
Vol 59 (12) ◽  
pp. 2413-2420 ◽  
Author(s):  
Takuya Takeichi ◽  
Yusuke Okuno ◽  
Akane Kawamoto ◽  
Takeshi Inoue ◽  
Eiko Nagamoto ◽  
...  
Keyword(s):  
Stratum Corneum ◽  
Dehydrogenase Deficiency ◽  
Phosphoglycerate Dehydrogenase

Beneficial effects ofL-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

1998 ◽  
Vol 44 (2) ◽  
pp. 261-265 ◽  
Author(s):  
Tom J. de Koning ◽  
Marinus Duran ◽  
Lambertus Dorland ◽  
Rob Gooskens ◽  
Emile van Schaftingen ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Beneficial Effects ◽  
Phosphoglycerate Dehydrogenase

3-Phosphoglycerate Dehydrogenase Deficiency

2009 ◽  
pp. 1638-1639
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Phosphoglycerate Dehydrogenase
Sign in / Sign up

Export Citation Format

Share Document