Condition 101 content is not available at this time, but we are continually updating the site. Please check back.
However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Sylvia Santosa practices in Montreal, Canada. Santosa is rated as an Elite expert by MediFind in the treatment of Antigen-Peptide-Transporter 2 Deficiency. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Antigen-Peptide-Transporter 2 Deficiency, Obesity, Isolated Hypogonadotropic Hypogonadism, Hypogonadotropic Hypogonadism, and Orchiectomy.
Asghar Ghasemi practices in Valiabad-e Beheshti, Islamic Republic of Iran. Ghasemi is rated as a Distinguished expert by MediFind in the treatment of Antigen-Peptide-Transporter 2 Deficiency. They are also highly rated in 9 other conditions, according to our data. Their top areas of expertise are Antigen-Peptide-Transporter 2 Deficiency, Hypothyroidism, Type 2 Diabetes (T2D), Congenital Hypothyroidism, and Oophorectomy.
Gokhan Cesur practices in Aydin, Turkey. Cesur is rated as a Distinguished expert by MediFind in the treatment of Antigen-Peptide-Transporter 2 Deficiency. They are also highly rated in 3 other conditions, according to our data. Their top areas of expertise are Antigen-Peptide-Transporter 2 Deficiency, Methimazole Antenatal Exposure, Hypothyroidism, and Congenital Hypothyroidism.
There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.
Summary: This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rat...
Summary: Owing to the rarity, severity, speed of progression and fatal prognosis of infantile and juvenile GM1, there is a limited understanding of overall disease progression and meaningful outcome measures. This study aims to build a natural history data set through collection of a number of clinical, imaging, and laboratory assessments that may be specific predictors of GM1 disease progression and clini...