Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic syndromes of unknown etiology. They are seen in early childhood and are categorized into six different types by their symptoms.
Duygu Ofluoğlu +5 more
openalex +2 more sources
A case of hereditary sensory and autonomic neuropathy (HSAN) type II [PDF]
We describe a case of hereditary sensory and autonomic neuropathy (HSAN) type II in a child with a penetrating foot ulcer, acral sensory impairment, and anhidrosis. This is the first documentation of HSAN in Sri Lanka.
AT Alibhoy +4 more
openalex +2 more sources
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I) [PDF]
Henry Houlden +12 more
openalex +2 more sources
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN [PDF]
Keivan Kaveh Moghadam +21 more
openalex +2 more sources
CONGENITAL SENSORY NEUROPATHY (HSAN II)
A 5 year old girl having hereditary sensory neuropathy, type II manifesting as congenital absence of pain sensation and trophic changes in the skin is reported. This child presented with presented with multiple ulcers over hands and feet since 2 years of
Venkata Chalam K +4 more
openalex +2 more sources
HSAN: A Side Adapter Network with Hybrid Compression and Local Enhancement Attention [PDF]
Significant progress has been made in open-vocabulary semantic segmentation tasks, particularly in recognizing and segmenting unseen categories by leveraging Contrastive Language-Image Pre-training CLIP .
Yuguang Fu
openalex +2 more sources
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated [PDF]
Thorsten Hornemann +7 more
openalex +2 more sources
Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]
ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Pant S +4 more
europepmc +2 more sources
Relationship between proprioception at the knee joint and gait ataxia in HSAN III
Vaughan G. Macefield +3 more
openalex +2 more sources
Human Protein N-terminal Acetyltransferase hNaa50p (hNAT5/hSAN) Follows Ordered Sequential Catalytic Mechanism [PDF]
Background: Nα-Acetylation is catalyzed by N-terminal acetyltransferases (NATs). The reaction mechanisms of NATs are unknown. hNaa50p is a member of the human NAT family. Results: Kinetic parameters and product inhibition patterns were determined. Acetyl-
Rune Evjenth +5 more
openalex +2 more sources

