X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (95) 95
index medicus (68) 68
female (50) 50
male (49) 49
genetics & heredity (40) 40
infant, newborn (37) 37
pediatrics (30) 30
child, preschool (27) 27
infant (27) 27
mutation (23) 23
child (22) 22
adolescent (19) 19
adult (19) 19
diagnosis (18) 18
medical laboratory technology (18) 18
phenotype (18) 18
medicine, research & experimental (17) 17
disease (15) 15
enzyme replacement therapy (15) 15
metabolism (15) 15
enzymes (14) 14
tandem mass spectrometry (14) 14
mutations (13) 13
analysis (12) 12
genetics (12) 12
research (12) 12
tandem mass-spectrometry (12) 12
clinical neurology (11) 11
genetic aspects (11) 11
infants (11) 11
mass spectrometry (11) 11
neonatal screening - methods (11) 11
biochemistry & molecular biology (10) 10
care and treatment (10) 10
dried blood spots (10) 10
internal medicine (10) 10
medicine (10) 10
young adult (10) 10
article (9) 9
children (9) 9
deficiency (9) 9
dried blood spot (9) 9
gene (9) 9
medical screening (9) 9
newborn screening (9) 9
tandem mass spectrometry - methods (9) 9
endocrinology & metabolism (8) 8
health aspects (8) 8
medicine & public health (8) 8
physiological aspects (8) 8
abridged index medicus (7) 7
biochemistry (7) 7
chemistry (7) 7
fabry disease (7) 7
fabry disease - diagnosis (7) 7
genetic disorders (7) 7
homocysteine (7) 7
hunter syndrome (7) 7
lysosomal storage disorders (7) 7
medical colleges (7) 7
middle aged (7) 7
neonatal screening (7) 7
patients (7) 7
age (6) 6
creatine (6) 6
genes (6) 6
genotype (6) 6
genotype & phenotype (6) 6
lysosomal storage diseases - diagnosis (6) 6
pregnancy (6) 6
prevalence (6) 6
proteins (6) 6
treatment outcome (6) 6
animals (5) 5
beer (5) 5
compositions or test papers therefor (5) 5
condition-responsive control in microbiological orenzymological processes (5) 5
disorders (5) 5
dna mutational analysis (5) 5
enzymology (5) 5
fabry disease - genetics (5) 5
genetic research (5) 5
glycogen storage disease type ii - diagnosis (5) 5
growth (5) 5
heterozygote (5) 5
hospitals (5) 5
inborn error (5) 5
investigating or analysing materials by determining theirchemical or physical properties (5) 5
magnetic resonance imaging (5) 5
measuring (5) 5
measuring or testing processes involving enzymes, nucleicacids or microorganisms (5) 5
metabolic diseases (5) 5
metabolites (5) 5
metallurgy (5) 5
microbiology (5) 5
mucopolysaccharidosis ii - diagnosis (5) 5
mutation or genetic engineering (5) 5
neurosciences (5) 5
physics (5) 5
polymerase chain reaction (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Clinical Chemistry, ISSN 0009-9147, 03/2017, Volume 63, Issue 3, pp. 786 - 788
HGA is readily oxidized to benzoquinone-acetic acid, which polymerizes to form a "melanin-like" pigment in a copper-dependent enzymatic reaction that is... 
MEDICAL LABORATORY TECHNOLOGY | Urine | Alkaptonuria - urine | Gas Chromatography-Mass Spectrometry | Humans | Color | Rare Diseases - diagnosis | Child, Preschool | Rare Diseases - urine | Male | Alkaptonuria - diagnosis | Case studies | Care and treatment | Diagnosis | Alkaptonuria | Enzymes | Hospitals | Acids | Metabolites | Families & family life | Arthritis | Metabolism | Patients | Children & youth
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2019
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S25 - S25
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S26 - S26
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2019, Volume 21, p. 100530
Fabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available... 
Globotriaosylceramide | Fabry disease | Pediatric | Enzyme replacement
Journal Article
Annals of Neurology, ISSN 0364-5134, 04/2009, Volume 65, Issue 4, pp. 482 - 483
Journal Article
Annals of Neurology, ISSN 0364-5134, 04/2009, Volume 65, Issue 4, pp. 482 - 483
Journal Article
Annals of Neurology, ISSN 0364-5134, 04/2009, Volume 65, Issue 4, pp. 482 - 483
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2015, Volume 114, Issue 2, pp. S23 - S24
Journal Article
Current Protocols in Human Genetics, ISSN 1934-8266, 2014, Volume 2014, pp. 17.15.1 - 17.15.6
Gaucher Disease (GD) is a progressive lysosomal storage disorder caused by deficiency of glucocerebrosidase (GBA). The clinical phenotype follows a spectrum... 
Tandem mass spectrometry | Glucocerebrosidase | Gaucher disease | Dried blood spot | GBA | Lysosomal storage disorder | tandem mass spectrometry | Gaucher Disease | dried blood spot | lysosomal storage disorder | glucocerebrosidase | Gaucher Disease - diagnosis | Humans | Infant, Newborn
Journal Article
Molecular genetics and metabolism reports, ISSN 2214-4269, 06/2017, Volume 11, p. 62
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its... 
Journal Article
Current Protocols in Human Genetics, ISSN 1934-8266, 2012, Volume Chapter 17, Issue 75, p. Unit17.11
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 93, Issue 2, pp. 17 - 17
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2012, Volume 105, Issue 2, pp. S49 - S49
Journal Article
Current Protocols in Human Genetics, ISSN 1934-8266, 2013, Volume Chapter 17, Issue 77, p. Unit17.13
Journal Article
Clinical Therapeutics, ISSN 0149-2918, 2007, Volume 29, pp. S73 - S73
Journal Article
Clinical Therapeutics, ISSN 0149-2918, 01/2007, Volume 29, p. S73
Journal Article
No results were found for your search.

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