William A Gahl Selected Research

Chediak-Higashi Syndrome

4/2016	Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.
1/2013	Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome.
1/2010	Two novel mutations identified in an african-american child with chediak-higashi syndrome.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

William A Gahl Research Topics

Disease

21	Cystinosis 01/2020 - 08/2002
19	Muscular Diseases (Myopathy) 11/2021 - 12/2003
16	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome) 01/2018 - 02/2002
15	Pulmonary Fibrosis (Fibrosing Alveolitis) 05/2022 - 07/2002
14	Undiagnosed Diseases 01/2022 - 01/2012
8	Alkaptonuria 01/2020 - 09/2002
8	Nonaka type Distal myopathy 11/2011 - 03/2004
7	Fanconi Syndrome (Syndrome, Fanconi) 01/2019 - 12/2003
6	Hemorrhage 01/2020 - 03/2002
6	Agenesis of Cerebellar Vermis 12/2018 - 12/2015
5	Inflammation (Inflammations) 05/2022 - 12/2009
5	Rickets (Rachitis) 11/2021 - 05/2006
5	Rare Diseases (Rare Disease) 01/2021 - 08/2014
5	Oculocutaneous Albinism (Albinism, Yellow Mutant) 01/2019 - 02/2002
5	Lung Diseases (Lung Disease) 01/2018 - 05/2011
5	Fibrosis (Cirrhosis) 01/2018 - 06/2013
5	Ochronosis 12/2009 - 09/2002
5	Sialic Acid Storage Disease (Salla Disease) 11/2008 - 07/2003
4	Congenital Disorders of Glycosylation 07/2022 - 06/2015
4	Nervous System Diseases (Neurological Disorders) 12/2021 - 01/2014
4	Dystonia (Limb Dystonia) 12/2020 - 01/2017
4	Hypothyroidism 10/2020 - 12/2003
4	Portal Hypertension 09/2020 - 01/2012
4	Idiopathic Pulmonary Fibrosis 01/2020 - 06/2013
4	Neoplasms (Cancer) 01/2019 - 06/2010
4	Intellectual Disability (Idiocy) 12/2018 - 06/2015
4	Renal Insufficiency (Renal Failure) 01/2018 - 09/2002
4	Optic Atrophy 01/2017 - 07/2002
4	Arthritis (Polyarthritis) 08/2011 - 11/2004
4	Photophobia (Light Sensitivity) 05/2006 - 12/2003
3	Hypertension (High Blood Pressure) 01/2022 - 05/2006
3	Acidosis 01/2022 - 12/2003
3	Arterial calcification of infancy 11/2021 - 05/2016
3	Muscle Weakness 02/2020 - 03/2004
3	Albinism 01/2020 - 06/2011
3	Disease Susceptibility (Diathesis) 01/2020 - 10/2005
3	Seizures (Absence Seizure) 09/2019 - 06/2015
3	Thrombosis (Thrombus) 09/2019 - 11/2004
3	Hypopigmentation (Hypomelanosis) 01/2019 - 06/2008
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2019 - 01/2004
3	Disease Progression 11/2018 - 07/2003
3	Nephrocalcinosis 10/2018 - 04/2013
3	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2018 - 01/2016
3	Kidney Diseases (Kidney Disease) 01/2018 - 01/2017
3	Cardiomyopathies (Cardiomyopathy) 01/2018 - 01/2017
3	Platelet Storage Pool Deficiency 01/2017 - 02/2002
3	Vascular Calcification 05/2016 - 05/2006
3	Chediak-Higashi Syndrome 04/2016 - 01/2010
3	Epilepsy (Aura) 06/2015 - 05/2009
2	Ataxia (Dyssynergia) 11/2021 - 05/2009
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 01/2018
2	Atrophy 02/2020 - 04/2018

Drug/Important Bio-Agent (IBA)

35	Proteins (Proteins, Gene)FDA Link 03/2021 - 06/2003
17	Uridine Diphosphate (UDP)IBA 01/2022 - 03/2004
15	N-Acetylneuraminic Acid (Sialic Acid)IBA 11/2021 - 07/2003
15	EnzymesIBA 11/2021 - 03/2004
13	Cysteamine (Mercaptamine)FDA Link 12/2019 - 12/2003
12	Cystine (L-Cystine)IBA 01/2019 - 12/2003
8	Racemases and Epimerases (Epimerases and Racemases)IBA 02/2020 - 03/2004
7	Phosphotransferases (Kinase)IBA 01/2022 - 11/2005
7	N-acetylmannosamineIBA 11/2021 - 11/2005
7	Homogentisic AcidIBA 01/2020 - 09/2002
6	LipidsIBA 12/2021 - 06/2010
6	Biomarkers (Surrogate Marker)IBA 01/2021 - 01/2014
6	AcetylglucosamineIBA 02/2020 - 03/2004
6	Phosphates (Orthophosphate)IBA 01/2020 - 12/2009
6	Polysaccharides (Glycans)IBA 01/2019 - 08/2006
5	N-acylmannosamine kinaseIBA 02/2020 - 03/2004
5	Amino Acids FDA Link 01/2018 - 12/2003
5	Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)IBA 12/2009 - 09/2002
4	Bleomycin (Blenoxane)FDA LinkGeneric 05/2022 - 04/2017
4	nitisinone (Orfadin)FDA Link 01/2019 - 06/2005
4	CytokinesIBA 01/2018 - 12/2009
4	DNA (Deoxyribonucleic Acid)IBA 12/2017 - 05/2011
4	Retinaldehyde (Retinal)IBA 01/2017 - 12/2003
4	Nonsense Codon (Nonsense Mutation)IBA 11/2014 - 02/2002
3	Hormones (Hormone)IBA 08/2021 - 01/2014
3	Protein Isoforms (Isoforms)IBA 12/2020 - 08/2013
3	Transaminases (Aminotransferases)IBA 01/2020 - 06/2005
3	Tyrosine (L-Tyrosine)FDA Link 01/2020 - 08/2011
3	Monophenol Monooxygenase (Tyrosinase)IBA 01/2019 - 10/2011
3	Melanins (Melanin)IBA 01/2019 - 10/2011
3	Alkaline PhosphataseIBA 01/2019 - 01/2017
3	RNA (Ribonucleic Acid)IBA 12/2018 - 06/2010
3	Insulin (Novolin)FDA Link 01/2018 - 01/2017
3	Glucose (Dextrose)FDA LinkGeneric 01/2018 - 05/2004
3	pirfenidoneIBA 01/2018 - 07/2002
3	Messenger RNA (mRNA)IBA 12/2017 - 12/2009
3	3-methylglutaric acidIBA 01/2014 - 07/2002
3	3-methylglutaconic acidIBA 01/2014 - 07/2002
2	Lysine (L-Lysine)FDA Link 01/2022 - 02/2017
2	Ligases (Synthetase)IBA 01/2022 - 06/2015
2	Ether (Diethyl Ether)IBA 12/2021 - 01/2021
2	C-Reactive ProteinIBA 08/2021 - 01/2020
2	Membrane Transport Proteins (Biological Pump)IBA 01/2021 - 01/2013
2	CalciumIBA 01/2020 - 01/2019
2	Glycoproteins (Glycoprotein)IBA 01/2020 - 05/2017

Therapy/Procedure

24	Therapeutics 05/2022 - 12/2002
4	Kidney Transplantation 10/2018 - 09/2002
3	Lung Transplantation 01/2018 - 10/2005