W A Gahl Selected Research

ocular nonnephropathic Cystinosis

1/2000

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

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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	CeroidIBA 01/2021 - 03/2000
6	Proteins (Proteins, Gene)FDA Link 01/2018 - 01/2000
4	Cystine (L-Cystine)IBA 02/2001 - 01/2000
2	MineralsIBA 01/2018 - 07/2010
2	ProteomeIBA 08/2010 - 09/2007
2	Monophenol Monooxygenase (Tyrosinase)IBA 12/2009 - 09/2001
2	LipidsIBA 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 PhosphataseIBA 01/2018
1	ectonucleotide pyrophosphatase phosphodiesterase 1IBA 01/2018
1	Alanine (L-Alanine)FDA Link 01/2018
1	Levodopa (L Dopa)FDA LinkGeneric 01/2018
1	Serine (L-Serine)FDA Link 01/2018
1	SphingolipidsIBA 01/2018
1	Tryptophan-tRNA LigaseIBA 01/2018
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2018
1	Lactic Acid (Lactate)FDA LinkGeneric 05/2017
1	oligomycin sensitivity-conferring protein (complex V)IBA 05/2017
1	Biomarkers (Surrogate Marker)IBA 05/2017
1	sedoheptuloseIBA 03/2011
1	alpha-latrotoxin receptorIBA 11/2010
1	Acetates (Acetic Acid Esters)FDA Link 10/2009
1	Glycoproteins (Glycoprotein)IBA 09/2007
1	OligosaccharidesIBA 12/2001
1	Neuraminidase (Sialidase)IBA 12/2001
1	GlycopeptidesIBA 12/2001
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 11/2001
1	P-SelectinIBA 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	NucleotidesIBA 06/2001
1	Cysteamine (Mercaptamine)FDA Link 09/2000
1	Ophthalmic Solutions (Eye Drops)IBA 09/2000
1	TRPV1 receptorIBA 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