X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
pediatrics (19) 19
humans (18) 18
index medicus (18) 18
male (15) 15
mutation (13) 13
endocrinology & metabolism (11) 11
female (10) 10
infant (9) 9
diagnosis (7) 7
child, preschool (6) 6
gene (6) 6
metabolism (6) 6
turkey (6) 6
adolescent (5) 5
child (5) 5
patients (5) 5
tıp (5) 5
age (4) 4
children (4) 4
adult (3) 3
biochemistry, general (3) 3
biomedicine (3) 3
childrens health (3) 3
disease (3) 3
dna mutational analysis (3) 3
enzymes (3) 3
genetic aspects (3) 3
homozygote (3) 3
hyperglycemia (3) 3
hypoglycemia (3) 3
infant, newborn (3) 3
liver (3) 3
medicine (3) 3
metabolic diseases (3) 3
metabolic disorders (3) 3
mutation, missense (3) 3
mutations (3) 3
neurology (3) 3
neurosciences (3) 3
novel mutation (3) 3
oncology (3) 3
urine (3) 3
acidosis (2) 2
care and treatment (2) 2
case studies (2) 2
childhood (2) 2
clinical neurology (2) 2
complications and side effects (2) 2
congenital diseases (2) 2
diabetes (2) 2
diabetes mellitus (2) 2
diet (2) 2
dosage and administration (2) 2
dose-response relationship, drug (2) 2
follow-up studies (2) 2
glucose (2) 2
growth rate (2) 2
health aspects (2) 2
ichthyosis (2) 2
infants (2) 2
medical examination (2) 2
medical screening (2) 2
neonates (2) 2
neurologic crisis (2) 2
pedigree (2) 2
phenotype (2) 2
phenylalanine (2) 2
phenylketonuria (2) 2
polyneuropathy (2) 2
pregnancy (2) 2
proteins (2) 2
stability (2) 2
thyroid gland (2) 2
tyrosinemia type i (2) 2
2 dioxygenate (1) 1
3-methylcrotonyl-coa carboxylase deficiency (1) 1
abdomen (1) 1
abetalipoproteinemia (1) 1
abwasser (1) 1
acrocyanosis (1) 1
acyl-coa dehydrogenase (1) 1
acyl-coa dehydrogenase - deficiency (1) 1
adrenoleukodystrophy - complications (1) 1
adrenoleukodystrophy - diagnosis (1) 1
adrenoleukodystrophy - genetics (1) 1
ald (1) 1
alkaptonuria (1) 1
allergy (1) 1
aluminum compounds - therapeutic use (1) 1
amino acid transport systems, neutral - genetics (1) 1
aminomethyltransferase - genetics (1) 1
amt (1) 1
anaerober prozess (1) 1
anaerobic digestion (1) 1
anaerobic-digestion (1) 1
analysis (1) 1
anaphylactic reaction (1) 1
anemia (1) 1
antithyroid agents - therapeutic use (1) 1
antithyroid drug (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 06/2018, Volume 31, Issue 6, pp. 619 - 624
Background: Congenital hypothyroidism (CH) is a common cause of mental retardation; it has a worldwide incidence ranging from 1: 3000 to 1: 4500 live births.... 
initiation of treatment | congenital hypothyroidism | diagnosis time | screening program | THRESHOLD | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | Infants (Newborn) | Thyrotropin | Medical examination | Diagnosis | Statistics | Congenital hypothyroidism
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A151
IntroductionFanconi Bickel Syndrome (FBS) is a rare autosomal recessively inherited inborn error of metabolism due to impaired utilization of glucose and... 
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S100 - S100
Journal Article
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
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S100 - S100
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, p. S100
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 01/2011, Volume 53, Issue 1, pp. 40 - 47
Aim  The aim of this study was to determine the prevalence and correlates of restless legs syndrome (RLS) in adolescents. Method  A sleep questionnaire aimed... 
CRITERIA | LIMB MOVEMENT-DISORDER | COMMUNITY | PEDIATRICS | SYMPTOMS | OF-THE-LITERATURE | QUESTIONNAIRE | GROWING PAINS | CHILDHOOD | EPIDEMIOLOGY | CLINICAL NEUROLOGY | CHILDREN | Prevalence | Restless Legs Syndrome - epidemiology | Restless Legs Syndrome - physiopathology | Turkey - epidemiology | Humans | Adolescent | Female | Male | Surveys and Questionnaires | Chi-Square Distribution
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
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. S100 - S101
Journal Article
Balkan Medical Journal, ISSN 2146-3123, 05/2016, Volume 33, Issue 3, pp. 370 - 372
Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate... 
Neurologic crisis | Tyrosinemia type I | Pancreatitis | MEDICINE, GENERAL & INTERNAL | pancreatitis | tyrosinemia type I | Case Report
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 03/2018, Volume 31, Issue 3, pp. 339 - 343
Background: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be... 
profound | biotinidase | partial | novel mutation | NEWBORN | GENE | ENDOCRINOLOGY & METABOLISM | PEDIATRICS | FEATURES | CHILDREN | FAMILY | Biotinidase deficiency | Infants (Newborn) | Medical examination | Diagnosis | Methods
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
No results were found for your search.

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