The Battlefield of Rare Diseases: Where Uncommon Insights Are Common

por Gahl, William A.
Publicado 2012

Cystinosis: the evolution of a treatable disease

por Nesterova, Galina, Gahl, William A.
Publicado 2012

Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments

por Klein, Christoph, Gahl, William A
Publicado en EMBO Mol Med (2017)

Inherited Disorders of Lysosomal Membrane Transporters

por Huizing, Marjan, Gahl, William A.
Publicado en Biochim Biophys Acta Biomembr (2020)

Important Role of Translational Science in Rare Disease Innovation, Discovery, and Drug Development

por Pariser, Anne R., Gahl, William A.
Publicado 2014

Lysosomal storage diseases

por Ferreira, Carlos R., Gahl, William A.
Publicado en Transl Sci Rare Dis (2017)

Disorders of metal metabolism

por Ferreira, Carlos R., Gahl, William A.
Publicado en Transl Sci Rare Dis (2017)

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians

por Gahl, William A., Boerkoel, Cornelius F., Boehm, Manfred
Publicado 2012

The curse of idiopathic

por O’Brien, Kevin J., Gahl, William A., Gochuico, Bernadette R.
Publicado en J Inherit Metab Dis (2017)

Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

por Anikster, Yair, Kleta, Robert, Shaag, Avraham, Gahl, William A., Elpeleg, Orly
Publicado 2001

Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi Syndrome

por WHITE, JAMES G., HESS, RICHARD A., GAHL, WILLIAM A., INTRONE, WENDY
Publicado 2012

First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7

por Soheilipour, Fahimeh, Fazilaty, Hassan, Jesmi, Fatemeh, Gahl, William A., Behnam, Babak
Publicado en Mol Genet Metab Rep (2016)

A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity

por Purcell, Ryan H., Toro, Camilo, Gahl, William A., Hall, Randy A.
Publicado en Hum Mutat (2017)

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

por Tsilou, Ekaterini, Zhou, Min, Gahl, William, Sieving, Pamela C., Chan, Chi-Chao
Publicado 2007

An Apparent Homozygous Deletion in Maltase-Glucoamylase, a Lesson in the Evolution of SNP Arrays

por Eccleston, Jason, Koh, Christopher, Markello, Thomas C., Gahl, William A., Heller, Theo
Publicado 2012

Kearns-Sayre syndrome presenting as isolated growth failure

por Holloman, Conisha Mone, Wolfe, Lynne A, Gahl, William A, Boerkoel, Cornelius F
Publicado 2013

MON-605 Hypothyroidism in Erdheim-Chester Disease: Experience from a Tertiary Care National Referral Center

por Shekhar, Skand, Hannah-Shmouni, Fady, Gahl, William, Estrada-Veras, Juvianee, Brien, Kevin
Publicado en J Endocr Soc (2019)

Disorders of Lysosome-related Organelle Biogenesis: Clinical and Molecular Genetics

por Huizing, Marjan, Helip-Wooley, Amanda, Westbroek, Wendy, Gunay-Aygun, Meral, Gahl, William A.
Publicado 2008

The Alpha Granule Proteome: Novel Proteins in Normal and Ghost Granules in Gray Platelet Syndrome

por Maynard, Dawn M., Heijnen, Harry F. G., Gahl, William A., Gunay-Aygun, Meral
Publicado 2010

FDG PET images in a patient with Erdheim-Chester Disease

por Sioka, Chrissa, Estrada-Veras, Juvianee, Maric, Irinia, Gahl, William A., Chen, Clara C.
Publicado 2014