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W A Gahl Selected Research
W A Gahl Research Topics
Disease
8
Cystinosis
03/2011 - 01/2000
3
Intellectual Disability (Idiocy)
01/2018 - 05/2017
3
Platelet Storage Pool Deficiency
09/2007 - 03/2000
3
Oculocutaneous Albinism (Albinism, Yellow Mutant)
09/2001 - 03/2000
3
Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
09/2001 - 01/2000
2
Mitochondrial Diseases (Mitochondrial Disease)
01/2018 - 05/2017
2
Lung Diseases (Lung Disease)
09/2001 - 02/2001
2
Sialic Acid Storage Disease (Salla Disease)
06/2001 - 06/2001
2
Photophobia (Light Sensitivity)
09/2000 - 01/2000
1
Granuloma
01/2021
1
Muscular Diseases (Myopathy)
01/2019
1
Disease Progression
01/2019
1
Ankylosis
01/2018
1
Ichthyosis (Xeroderma)
01/2018
1
Microcephaly
01/2018
1
Peripheral Nervous System Diseases (PNS Diseases)
01/2018
1
Seizures (Absence Seizure)
01/2018
1
Parkinsonian Disorders (Parkinsonism)
01/2018
1
Leukoencephalopathies
01/2018
1
Brain Diseases (Brain Disorder)
05/2017
1
Epilepsy (Aura)
05/2017
1
3-Methylglutaconic Aciduria
05/2017
1
Retinoblastoma (Glioblastoma, Retinal)
04/2017
1
Wounds and Injuries (Trauma)
11/2012
1
Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder)
11/2010
1
Gray Platelet Syndrome
08/2010
1
Hypopigmentation (Hypomelanosis)
12/2009
1
Inborn Genetic Diseases (Disease, Hereditary)
10/2009
1
Canavan Disease (Leukodystrophy, Spongiform)
10/2009
1
Inflammation (Inflammations)
09/2007
1
Mucolipidoses (Sialidosis)
12/2001
1
Neuraminidase deficiency with beta-galactosidase deficiency
12/2001
1
Primary Myelofibrosis (Myelosclerosis)
11/2001
1
Melanoma (Melanoma, Malignant)
09/2001
1
Hemorrhage
09/2001
1
Crohn Disease (Crohn's Disease)
08/2001
1
Pulmonary Fibrosis (Fibrosing Alveolitis)
08/2001
1
Fabry Disease (Fabry's Disease)
07/2001
1
Bietti Crystalline Dystrophy
07/2001
1
Infections
07/2001
1
Wolman Disease (Wolman's Disease)
07/2001
1
Abdominal Pain (Pain, Abdominal)
06/2001
1
Facies
06/2001
1
Distal Myopathies (Distal Muscular Dystrophy)
02/2001
1
Lysosomal Storage Diseases (Lysosomal Storage Disease)
09/2000
1
ocular nonnephropathic Cystinosis
01/2000
Drug/Important Bio-Agent (IBA)
6
Ceroid
IBA
01/2021 - 03/2000
6
Proteins (Proteins, Gene)
FDA Link
01/2018 - 01/2000
4
Cystine (L-Cystine)
IBA
02/2001 - 01/2000
2
Minerals
IBA
01/2018 - 07/2010
2
Proteome
IBA
08/2010 - 09/2007
2
Monophenol Monooxygenase (Tyrosinase)
IBA
12/2009 - 09/2001
2
Lipids
IBA
10/2009 - 07/2001
2
DNA (Deoxyribonucleic Acid)
IBA
11/2001 - 02/2000
2
N-Acetylneuraminic Acid (Sialic Acid)
IBA
06/2001 - 06/2001
1
Alkaline Phosphatase
IBA
01/2018
1
ectonucleotide pyrophosphatase phosphodiesterase 1
IBA
01/2018
1
Alanine (L-Alanine)
FDA Link
01/2018
1
Levodopa (L Dopa)
FDA Link
Generic
01/2018
1
Serine (L-Serine)
FDA Link
01/2018
1
Sphingolipids
IBA
01/2018
1
Tryptophan-tRNA Ligase
IBA
01/2018
1
Mitochondrial Proteins (Mitochondrial Protein)
IBA
01/2018
1
Lactic Acid (Lactate)
FDA Link
Generic
05/2017
1
oligomycin sensitivity-conferring protein (complex V)
IBA
05/2017
1
Biomarkers (Surrogate Marker)
IBA
05/2017
1
sedoheptulose
IBA
03/2011
1
alpha-latrotoxin receptor
IBA
11/2010
1
Acetates (Acetic Acid Esters)
FDA Link
10/2009
1
Glycoproteins (Glycoprotein)
IBA
09/2007
1
Oligosaccharides
IBA
12/2001
1
Neuraminidase (Sialidase)
IBA
12/2001
1
Glycopeptides
IBA
12/2001
1
Intercellular Signaling Peptides and Proteins (Growth Factors)
IBA
11/2001
1
P-Selectin
IBA
11/2001
1
Membrane Transport Proteins (Biological Pump)
IBA
10/2001
1
Complementary DNA (cDNA)
IBA
09/2001
1
Fatty Acids (Saturated Fatty Acids)
IBA
07/2001
1
Transaminases (Aminotransferases)
IBA
06/2001
1
Racemases and Epimerases (Epimerases and Racemases)
IBA
06/2001
1
Nucleotides
IBA
06/2001
1
Cysteamine (Mercaptamine)
FDA Link
09/2000
1
Ophthalmic Solutions (Eye Drops)
IBA
09/2000
1
TRPV1 receptor
IBA
02/2000
1
Messenger RNA (mRNA)
IBA
01/2000
Therapy/Procedure
2
Therapeutics
01/2019 - 07/2001
1
Colectomy
01/2021
1
Tooth Movement Techniques
01/2018
1
Ligation
04/2017
1
Organ Transplantation
11/2012
1
Kidney Transplantation
02/2001
1
Slit Lamp
09/2000