Dr. William Allen Gahl M.D.
Pediatrician
10 Center Drive Msc 1851 Bldg. 10, Room 10c-1 Bethesda MD, 20892Rating
3/5
About
Dr. William Gahl is a pediatrician practicing in Bethesda, MD. Dr. Gahl is a doctor who specializes in the health care of children. As a pedicatrician, Dr. Gahl diagnoses and treats infections, injuries, diseases and other disorders in children. Pediatricians typically work with infants, children, teenagers and young adults up to age 21. They practice medical care as well as preventative health care. Dr. Gahl can oversee and manage the physical, mental and emotional health of their patients.
Board Certification
Medical GeneticsAmerican Board of Medical GeneticsABMG
PediatricsAmerican Board of PediatricsABP
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
- Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).
- Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
- Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
- Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene.
- Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.
- CTNS mutations in patients with cystinosis.
- Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
- Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene.
- Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.
- The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.
- A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.
- Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism.
- Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.
- Trafficking of major histocompatibility complex class II molecules in human B-lymphoblasts deficient in the AP-3 adaptor complex.
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