William A Gahl Selected Research

Amino Acids

9/2023	Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.
1/2018	Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
9/2016	First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7.
1/2013	Cystinosis: the evolution of a treatable disease.
1/2004	Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003.
12/2003	Early oral cysteamine therapy for nephropathic cystinosis.

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William A Gahl Research Topics

Disease

22	Cystinosis 03/2024 - 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 11/2023 - 01/2012
8	Fanconi Syndrome (Syndrome, Fanconi) 09/2023 - 12/2003
8	Alkaptonuria 01/2020 - 09/2002
8	Nonaka type Distal myopathy 11/2011 - 03/2004
6	Rickets (Rachitis) 09/2023 - 05/2006
6	Fibrosis (Cirrhosis) 01/2022 - 06/2013
6	Hemorrhage 01/2020 - 03/2002
6	Agenesis of Cerebellar Vermis 12/2018 - 12/2015
5	Inflammation (Inflammations) 05/2022 - 12/2009
5	Rare Diseases (Rare Disease) 01/2021 - 08/2014
5	Oculocutaneous Albinism (Albinism, Yellow Mutant) 01/2019 - 02/2002
5	Neoplasms (Cancer) 01/2019 - 06/2010
5	Lung Diseases (Lung Disease) 01/2018 - 05/2011
5	Ochronosis 12/2009 - 09/2002
5	Sialic Acid Storage Disease (Salla Disease) 11/2008 - 07/2003
4	Inborn Genetic Diseases (Disease, Hereditary) 04/2024 - 01/2004
4	Vascular Calcification 04/2024 - 05/2006
4	Chediak-Higashi Syndrome 01/2023 - 01/2010
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	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	Congenital Abnormalities (Deformity) 04/2024 - 10/2018
3	Atrophy 01/2023 - 04/2018
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	Disease Susceptibility (Diathesis) 01/2020 - 10/2005
3	Breast Neoplasms (Breast Cancer) 01/2020 - 06/2010
3	Albinism 01/2020 - 06/2011
3	Seizures (Absence Seizure) 09/2019 - 06/2015
3	Thrombosis (Thrombus) 09/2019 - 11/2004
3	Hypopigmentation (Hypomelanosis) 01/2019 - 06/2008
3	Disease Progression 11/2018 - 07/2003
3	Nephrocalcinosis 10/2018 - 04/2013
3	Neurodegenerative Diseases (Neurodegenerative Disease) 04/2018 - 01/2016
3	Cardiomyopathies (Cardiomyopathy) 01/2018 - 01/2017
3	Kidney Diseases (Kidney Disease) 01/2018 - 01/2017
3	Platelet Storage Pool Deficiency 01/2017 - 02/2002
3	Epilepsy (Aura) 06/2015 - 05/2009
3	Neoplasm Metastasis (Metastasis) 01/2012 - 06/2010
2	Arthralgia (Joint Pain) 04/2024 - 11/2004
2	Pain (Aches) 04/2024 - 06/2005
2	Erdheim-Chester Disease 12/2023 - 10/2020

Drug/Important Bio-Agent (IBA)

37	Proteins (Proteins, Gene)FDA Link 09/2023 - 06/2003
18	Uridine Diphosphate (UDP)IBA 11/2023 - 03/2004
16	EnzymesIBA 03/2024 - 03/2004
15	N-Acetylneuraminic Acid (Sialic Acid)IBA 11/2021 - 07/2003
14	Cysteamine (Mercaptamine)FDA Link 03/2024 - 12/2003
13	Cystine (L-Cystine)IBA 03/2024 - 12/2003
8	Racemases and Epimerases (Epimerases and Racemases)IBA 02/2020 - 03/2004
7	Biomarkers (Surrogate Marker)IBA 03/2024 - 01/2014
7	Phosphates (Orthophosphate)IBA 11/2022 - 12/2009
7	LipidsIBA 01/2022 - 06/2010
7	Phosphotransferases (Kinase)IBA 01/2022 - 11/2005
7	N-acetylmannosamineIBA 11/2021 - 11/2005
7	Homogentisic AcidIBA 01/2020 - 09/2002
6	Amino Acids FDA Link 09/2023 - 12/2003
6	AcetylglucosamineIBA 02/2020 - 03/2004
6	Polysaccharides (Glycans)IBA 01/2019 - 08/2006
5	Retinaldehyde (Retinal)IBA 09/2023 - 12/2003
5	N-acylmannosamine kinaseIBA 02/2020 - 03/2004
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	Nonsense Codon (Nonsense Mutation)IBA 11/2014 - 02/2002
3	CalciumIBA 04/2024 - 01/2019
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	Melanins (Melanin)IBA 01/2019 - 10/2011
3	Monophenol Monooxygenase (Tyrosinase)IBA 01/2019 - 10/2011
3	Alkaline PhosphataseIBA 01/2019 - 01/2017
3	RNA (Ribonucleic Acid)IBA 12/2018 - 06/2010
3	Glucose (Dextrose)FDA LinkGeneric 01/2018 - 05/2004
3	Insulin (Novolin)FDA Link 01/2018 - 01/2017
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
3	Monomeric GTP-Binding ProteinsIBA 08/2010 - 08/2002
2	Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link 12/2023 - 06/2013

Therapy/Procedure

25	Therapeutics 03/2024 - 12/2002
4	Kidney Transplantation 10/2018 - 09/2002
3	Lung Transplantation 01/2018 - 10/2005