Summary: Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia: A Double-Blind Randomized Crossover Clinical Trial.

Summary: Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

Summary: Fludrocortisone for orthostatic hypotension.

Summary: Sarcoidosis-associated acro-osteolysis.

Summary: Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

Summary: Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing.

Summary: Hajdu-Cheney Syndrome: A Systematic Review of the Literature.

Summary: A 5-Year-Old Palestinian Bedouin Girl with Repeated Self-Induced Injuries to the Digits, a Diagnosis of Congenital Insensitivity to Pain, and Anhidrosis.

Summary: ATP-citrate lyase promotes axonal transport across species.

Summary: Genetic aspects of pain and its variability in the human population.

Summary: Gorham-Stout Disease with Multiple Bone Involvement-Challenging Diagnosis of a Rare Disease and Literature Review.

Summary: Atypical arthritis of the hands : Collagenosis-part 2.