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Brain Diseases, Metabolic, Inherited
Known as:
Metabolic Brain Diseases, Familial
, Inherited Metabolic Disorders, Brain
, Metabolic Disorders, Familial, Brain
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National Institutes of Health
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Related topics
1 relation
Broader (1)
Brain Diseases, Metabolic, Inborn
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
Phenotypes of AKT3 deletion: A case report and literature review
Dayu Gai
,
E. Haan
,
M. Scholar
,
J. Nicholl
,
Sui Yu
American journal of medical genetics. Part A
2015
Corpus ID: 40108502
AKT3 (v‐akt murine thymoma viral oncogene homolog 3) is located at chromosome 1q44 and encodes a 479 amino acid protein, a member…
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2015
2015
ResearchEffects of ranolazine on wild-type and mutant hNav 1 . 7 channels and on DRG neuron excitability
M. Estacion
,
S. Waxman
,
S. Dib-Hajj
2015
Corpus ID: 44765177
Background: A direct role of sodium channels in pain has recently been confirmed by establishing a monogenic link between SCN9A…
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Review
2014
Review
2014
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
A. Vondráčková
,
K. Vesela
,
+7 authors
M. Tesařová
European Journal of Human Genetics
2014
Corpus ID: 21608714
Mitochondrial disorders are caused by defects in mitochondrial or nuclear DNA. Although the existence of large deletions in…
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2011
2011
Gene therapy for primary immunodeficiencies.
A. Fischer
,
S. Hacein-Bey-Abina
,
M. Cavazzana‐Calvo
Hematology/oncology clinics of North America
2011
Corpus ID: 29417292
Review
2010
Review
2010
Gene therapy for primary immunodeficiencies.
A. Fischer
,
S. Hacein-Bey-Abina
,
M. Cavazzana‐Calvo
Immunology and allergy clinics of North America
2010
Corpus ID: 1587245
2006
2006
Quantification of fetal and total circulatory DNA in maternal plasma samples before and after size fractionation by agarose gel electrophoresis.
I. Hromadnikova
,
L. Zejskova
,
J. Doucha
,
D. Codl
DNA and cell biology
2006
Corpus ID: 28151512
Fetal extracellular DNA is mainly derived from apoptotic bodies of trophoblast. Recent studies have shown size differences…
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Review
1997
Review
1997
[Clinical and molecular genetic analyses of congenital myotonic dystrophy].
T. Kojo
,
K. Arahata
Nihon rinsho. Japanese journal of clinical…
1997
Corpus ID: 26223482
Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript…
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1985
1985
Serum lipid peroxide levels in rats with inherited cataracts.
K. Yagi
,
S. Komura
,
N. Ihara
,
H. Abe
,
H. Konishi
,
S. Arichi
Journal of applied biochemistry
1985
Corpus ID: 30647632
In a new strain of rat with inherited cataracts, a postnatal increase in serum lipid peroxide level was observed. It reached the…
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