X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
msud (76) 76
maple syrup urine disease (59) 59
humans (51) 51
index medicus (41) 41
female (29) 29
male (28) 28
genetics & heredity (26) 26
maple syrup urine disease - genetics (24) 24
mutation (24) 24
infant, newborn (22) 22
branched chain amino acids (20) 20
maple syrup urine disease - diagnosis (18) 18
pediatrics (18) 18
infant (17) 17
diagnosis (15) 15
urine (15) 15
biochemistry & molecular biology (14) 14
child, preschool (14) 14
metabolism (14) 14
identification (13) 13
3-methyl-2-oxobutanoate dehydrogenase - genetics (12) 12
amino acids (12) 12
child (12) 12
endocrinology & metabolism (12) 12
analysis (11) 11
branched-chain amino acids (11) 11
children (11) 11
genetic aspects (11) 11
leucine - blood (11) 11
rna interference (11) 11
maple syrup urine disease - blood (10) 10
meiosis (10) 10
neurosciences (10) 10
adult (9) 9
biomedicine (9) 9
fungi (9) 9
leucine (9) 9
maple syrup urine disease - therapy (9) 9
medicine (9) 9
molecular sequence data (9) 9
phenylketonuria (9) 9
syrup-urine-disease (9) 9
bckdha (8) 8
complex (8) 8
gene silencing (8) 8
genes (8) 8
maple syrup urine disease - metabolism (8) 8
meiotic silencing by unpaired dna (8) 8
tandem mass spectrometry (8) 8
adolescent (7) 7
amino acids, branched-chain - blood (7) 7
base sequence (7) 7
bckdhb (7) 7
biochemistry, general (7) 7
dna mutational analysis (7) 7
founder mutation (7) 7
genetics (7) 7
liver-transplantation (7) 7
mass spectrometry (7) 7
medicine, research & experimental (7) 7
neonatal screening (7) 7
neurospora-crassa (7) 7
newborn screening (7) 7
physiological aspects (7) 7
alpha-ketoacid dehydrogenase (6) 6
biology (6) 6
congenital, hereditary, and neonatal diseases and abnormalities (6) 6
epigenetics (6) 6
fungal proteins - genetics (6) 6
genetic research (6) 6
homozygote (6) 6
inborn errors of metabolism (6) 6
isoleucine - blood (6) 6
metabolic diseases (6) 6
metabolic disorders (6) 6
msud, maple syrup urine disease (6) 6
neurology (6) 6
neurospora crassa (6) 6
neurospora crassa - genetics (6) 6
oncology (6) 6
oxidative stress (6) 6
proteins (6) 6
treatment outcome (6) 6
3-methyl-2-oxobutanoate dehydrogenase - chemistry (5) 5
amino acids, branched-chain - metabolism (5) 5
animals (5) 5
article (5) 5
bckdhb gene (5) 5
brain (5) 5
dehydrogenases (5) 5
deoxyribonucleic acid--dna (5) 5
dna (5) 5
fungal proteins - metabolism (5) 5
gene (5) 5
hereditary diseases (5) 5
human genetics (5) 5
liver (5) 5
management (5) 5
maple syrup (5) 5
maple syrup urine disease - diet therapy (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Chromatography B, ISSN 1570-0232, 10/2019, Volume 1128, p. 121786
Plasma elevations of the amino acids alloisoleucine and argininosuccinic acid (ASA) are pathognomonic for maple syrup urine disease and argininosuccinate lyase... 
L-Alloisoleucine | Intrada | MSUD | Amino acid | Argininosuccinic aciduria | ASA
Journal Article
G3: Genes, Genomes, Genetics, ISSN 2160-1836, 10/2011, Volume 1, Issue 5, pp. 369 - 376
In Neurospora crassa, genes lacking a pairing partner during meiosis are suppressed by a process known as meiotic silencing by unpaired DNA (MSUD). To identify... 
Epigenetics | MSUD | Meiosis | RNA interference
Journal Article
Journal Article
Bali Medical Journal, ISSN 2089-1180, 02/2018, Volume 7, Issue 1, pp. 240 - 243
Background: Maple syrup urine disease (MSUD) is a rare genetic disease of metabolic disorder inherited as an autosomal recessive trait. The disease is caused... 
maple syrup urine disease, MSUD, BCAA
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 02/2006, Volume 103, Issue 7, pp. 2243 - 2248
A gene unpaired during the meiotic homolog pairing stage in Neurospora generates a sequence-specific signal that silences the expression of all copies of that... 
MSUD | METHYLATION | meiosis | RNA interference | Neurospora | MULTIDISCIPLINARY SCIENCES | epigenetics | NEUROSPORA-CRASSA | CELLULAR UPTAKE | TOOL
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 2014, Volume 1, Issue 1, pp. 273 - 279
Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical... 
Lebanon | MSUD | Lebanon MSUD | Maple Syrup Urine Disease | Mutation | MSUD novel mutations | Lebanese population
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2016, Volume 9, pp. 46 - 53
Maple syrup urine disease (MSUD) is the most common inborn error of metabolism in the country. The cause of the neuropathology is still not well established... 
Urine organic acids | MSUD | Neurologic features | Plasma amino acids | REDUCTION | GENETICS & HEREDITY | BRAIN
Journal Article
PROTEIN SCIENCE, ISSN 0961-8368, 01/2019, Volume 28, Issue 1, pp. 123 - 134
The pi-helix located at the tetramer interface of two-component FMN-dependent reductases contributes to the structural divergence from canonical FMN-bound... 
two-component FMN-dependent systems | DIMETHYL SULFIDE | SULFATE STARVATION RESPONSE | PROTEIN | ALKANESULFONATE MONOOXYGENASE | MECHANISM | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | SsuD | IDENTIFICATION | SOFTWARE | pi-helix | MsuD | SFNR | MsuE | ACTIVATOR | flavin reductases | SsuE | flavin monooxygenases | NAD(P)H-FMN reductase family
Journal Article
International Journal of Pediatrics, ISSN 2345-5047, 07/2018, Volume 6, Issue 7, pp. 7999 - 8002
Background Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive metabolic error, characterized by Branched Chain α-Keto-acid Dehydrogenase Complex... 
Genetic | MSUD | Quadriplegia | GTCS | Seizures
Journal Article
G3-GENES GENOMES GENETICS, ISSN 2160-1836, 10/2011, Volume 1, Issue 5, pp. 369 - 376
In Neurospora crassa, genes lacking a pairing partner during meiosis are suppressed by a process known as meiotic silencing by unpaired DNA (MSUD). To identify... 
MSUD | meiosis | RNA interference | PROTEIN | GENETICS | GENETICS & HEREDITY | QIP | BIMOLECULAR FLUORESCENCE COMPLEMENTATION | epigenetics | NEUROSPORA-CRASSA
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 01/2018, Volume 31, Issue 2, pp. 205 - 212
Background: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of the branched-chain alpha-ketoacid... 
MSUD | molecular genetic tests | BCCAs | BCKDH | COMPLEX | CODON | CRYSTAL-STRUCTURE | DISORDERS | IDENTIFICATION | FOUNDER MUTATION | ENDOCRINOLOGY & METABOLISM | MARRIAGES | E1-ALPHA | PEDIATRICS | ALPHA-KETOACID DEHYDROGENASE | Maple syrup urine disease | Genetic aspects | Diagnosis | Gene mutations
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2015, Volume 4, Issue C, pp. 49 - 52
Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched... 
Maple syrup urine disease | Liver transplant | Metabolic control | Abbreviations BCKAD branched chain ketoacid dehydrogenase | MSUD maple syrup urine disease
Journal Article
Journal of Dentistry Indonesia, ISSN 1693-9697, 07/2015, Volume 10, Issue 1, pp. 91 - 96
Maple Syrup Urine Disease is a disparity of leusin decarboxilation, and isoleusin of valin defect that is synthesized with complex enzyme systems. It is a rare... 
MSUD | dental treatment
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.