X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
pediatrics (16) 16
humans (14) 14
index medicus (13) 13
male (10) 10
female (9) 9
mutation (9) 9
endocrinology & metabolism (7) 7
child (6) 6
children (6) 6
diagnosis (6) 6
infant (6) 6
adolescent (5) 5
child, preschool (5) 5
gene (5) 5
metabolism (5) 5
turkey (5) 5
genetic aspects (4) 4
infant, newborn (4) 4
mutations (4) 4
patients (4) 4
disease (3) 3
health aspects (3) 3
homozygote (3) 3
liver (3) 3
medicine (3) 3
mutation, missense (3) 3
neurology (3) 3
novel mutation (3) 3
prognosis (3) 3
urine (3) 3
adult (2) 2
age (2) 2
biochemistry, general (2) 2
biomedicine (2) 2
childrens health (2) 2
clinical neurology (2) 2
complications and side effects (2) 2
development and progression (2) 2
diet (2) 2
features (2) 2
hyperglycemia (2) 2
hypoglycemia (2) 2
ichthyosis (2) 2
medical screening (2) 2
metabolic diseases (2) 2
metabolic disorders (2) 2
multivariate analysis (2) 2
neonatal screening (2) 2
neurosciences (2) 2
oncology (2) 2
pedigree (2) 2
phenotype (2) 2
phenylalanine (2) 2
phenylketonuria (2) 2
proteins (2) 2
research (2) 2
risk factors (2) 2
2 dioxygenate (1) 1
3-methylcrotonyl-coa carboxylase deficiency (1) 1
abdomen (1) 1
abdominal pain - diagnosis (1) 1
abetalipoproteinemia (1) 1
acidosis (1) 1
acrocyanosis (1) 1
acyl-coa dehydrogenase (1) 1
acyl-coa dehydrogenase - deficiency (1) 1
algorithms (1) 1
alkaptonuria (1) 1
amino acid transport systems, neutral - genetics (1) 1
aminomethyltransferase - genetics (1) 1
amt (1) 1
analysis (1) 1
anemia (1) 1
angiokeratoma (1) 1
antibiotics (1) 1
anticonvulsants - therapeutic use (1) 1
antifungal agents - therapeutic use (1) 1
apo-b (1) 1
apolipoprotein b (1) 1
apolipoproteins (1) 1
apolipoproteins b - genetics (1) 1
arginine - therapeutic use (1) 1
arthritis (1) 1
atopy (1) 1
bh4 (1) 1
bile (1) 1
biopterin - administration & dosage (1) 1
biopterin - analogs & derivatives (1) 1
biotin - administration & dosage (1) 1
biotinidase (1) 1
biotinidase - blood (1) 1
biotinidase - genetics (1) 1
biotinidase deficiency (1) 1
biotinidase deficiency - drug therapy (1) 1
biotinidase deficiency - genetics (1) 1
birth weight (1) 1
bleeding (1) 1
blood levels (1) 1
blood lipids (1) 1
blood transfusions (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A49
IntroductionIsovaleric acidemia (IVA) is a rare autosomal recessively inherited metabolic disorder caused by deficiency of isovaleryl-Co A dehydrogenase.... 
Journal Article
Metabolic Brain Disease, ISSN 0885-7490, 8/2018, Volume 33, Issue 4, pp. 1223 - 1227
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A325
IntroductionPhenylketonuria (PKU) is the most common and autosomal recessively inherited metabolic disease due to the deficiency of phenylalanine hydroxylase... 
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 05/2015, Volume 28, Issue 5, pp. 669 - 671
3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal recessively inherited disease of leucine catabolism. It is the most commonly observed... 
leucine | carnitine | 3-methylcrotonyl-CoA carboxylase deficiency | neonatal screening | PEDIATRICS | ENDOCRINOLOGY & METABOLISM | Urea Cycle Disorders, Inborn - diagnosis | Humans | Adult | Female | Carbon-Carbon Ligases - deficiency | Neonatal Screening | Infant, Newborn
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S100 - S100
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S101 - S101
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S100 - S101
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S87 - S88
Journal Article
Cukurova Medical Journal, ISSN 0250-5150, 12/2015, Volume 40, Issue 1, p. 156
Journal Article
Turkish Journal of Pediatrics, ISSN 0041-4301, 2016, Volume 58, Issue 4, pp. 362 - 370
We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular... 
Cystinosis | Mutations | CTNS | Fanconi syndrome | Cystinosin | CTNS MUTATIONS | cystinosis | mutations | GENE | PEDIATRICS | NEPHROPATHIC CYSTINOSIS | cystinosin | Humans | Child, Preschool | Cystinosis - genetics | Genotype | Infant | Male | Amino Acid Transport Systems, Neutral - genetics | Young Adult | Phenotype | Turkey | Pedigree | Adolescent | Female | Mutation | Child
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. S94 - S94
Journal Article
No results were found for your search.

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