scholarly journals Neurometabolic disorder due to serine deficiency

2020 ◽  
Author(s):  
Keyword(s):  
Neurometabolic Disorder

scholarly journals Neural Stem Cell Transplantation Benefits a Monogenic Neurometabolic Disorder During the Symptomatic Phase of Disease

Stem Cells ◽  
2009 ◽  
Vol 27 (9) ◽  
pp. 2362-2370 ◽  
Author(s):  
Mylvaganam Jeyakumar ◽  
Jean-Pyo Lee ◽  
Nicola R. Sibson ◽  
John P. Lowe ◽  
Daniel J. Stuckey ◽  
...  
Keyword(s):  
Stem Cell ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Neural Stem Cell ◽  
Neurometabolic Disorder

CT and MRI of the Brain in Inherited Neurometabolic Disorders

1992 ◽  
Vol 7 (1_suppl) ◽  
pp. S112-S131 ◽  
Author(s):  
Jan Brismar
Keyword(s):  
World Literature ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Neurometabolic Disorder ◽  
Neurometabolic Disorders ◽  
Number Of Patients ◽  
Pediatric Neurologist ◽  
The Brain ◽  
Very High ◽  
Ct And Mri

The incidence of many autosomal recessive neurometabolic disorders is very high in Saudi Arabia, probably as a result of the frequency of consanguineous marriages. Because our hospital is the main referral center for the entire Kingdom, we examine a large number of patients who have a wide spectrum of neurometabolic disorders. We add our experience and review the world literature. Though a specific diagnosis is radiologically possible in a few disorders, the diagnosis must always be verified biochemically. When the patient is referred from a pediatric neurologist with the diagnosis of neurometabolic disorder, the aim of the neuroradiologist is to determine the amount of brain damage present and to follow the response to given therapy. When the patient is referred with a nonspecific diagnosis, such as delayed development, the aim is to suggest the possibility of a neurometabolic disorder and to initiate further evaluation including possible therapy and genetic counseling. (J Child Neurol 1992;7(Suppl):S112-S131.)

Neurometabolic Disorder With Microcephaly, Dystonia, and Central Cyanosis Masquerading as Cerebral Palsy

2014 ◽  
Vol 29 (11) ◽  
pp. NP139-NP142 ◽  
Author(s):  
Kalpana Devadathan ◽  
Mini Sreedharan ◽  
Sanuja Sarasam ◽  
Roshan B. Colah ◽  
P. A. Mohammed Kunju
Keyword(s):  
Cerebral Palsy ◽  
Neurometabolic Disorder

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

O68 – 2091 Neurological phenotypes in Niemann-Pick type C disease: unraveling an overlooked neurometabolic disorder

2013 ◽  
Vol 17 ◽  
pp. S21-S22
Author(s):  
CM Lourenço ◽  
V Van der Linden ◽  
D Bonfim ◽  
E Ribeiro ◽  
W Marques Jr
Keyword(s):  
Neurometabolic Disorder ◽  
Type C ◽  
Niemann Pick

scholarly journals NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

2016 ◽  
Vol 99 (4) ◽  
pp. 894-902 ◽  
Author(s):  
Laura S. Kremer ◽  
Katharina Danhauser ◽  
Diran Herebian ◽  
Danijela Petkovic Ramadža ◽  
Dorota Piekutowska-Abramczuk ◽  
...  
Keyword(s):  
Early Childhood ◽  
Repair System ◽  
Neurometabolic Disorder

scholarly journals Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder

2019 ◽  
Vol 126 (1) ◽  
pp. 43-52 ◽  
Author(s):  
Christos Chinopoulos ◽  
Spyros Batzios ◽  
Lambertus P. van den Heuvel ◽  
Richard Rodenburg ◽  
Roel Smeets ◽  
...  
Keyword(s):  
Early Onset ◽  
Morphological Alterations ◽  
Neurometabolic Disorder

Cystinylglycinuria: A new neurometabolic disorder?

1999 ◽  
Vol 22 (3) ◽  
pp. 231-234 ◽  
Author(s):  
H. Bellet ◽  
F. Rejou ◽  
C. Vallat ◽  
H. Mion ◽  
A. Dimeglio
Keyword(s):  
Neurometabolic Disorder
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