medsynapse-hcp
Introduction Niemann Pick Disease Type C (NPC) is an ultra-rare, autosomal recessive lysosomal storage disorder caused by mutations in the NPC1 or NPC2 genes, leading to disrupted lipid metabolism and progressive cellular dysfunction (1). With an incidence of approximately 1 in 100,000 live births, the disease presents with a wide clinical spectrum
Challenges in Managing Niemann Pick Disease Type C: Recognition, Access, and Long-Term Care

Challenges in Managing Niemann Pick Disease Type C: Recognition, Access, and Long-Term Care

756 Reached46 Comments

Similar Content

Fremanezumab for Prevention and Treatment of Migraine
Fremanezumab for Prevention and Treatment of Migraine
390 Reached13 Comments11 Likes
Case of Adolescent with Severe Macrocytic Anaemia
Case of Adolescent with Severe Macrocytic Anaemia
52856 Reached502 Comments51 Likes
Young Girl Presented with Irritability and Abnormal Behavior
Young Girl Presented with Irritability and Abnormal Behavior
2254 Reached10 Comments4 Likes
Male with Urethral Bleeding due to Insertion of Telephone Wire in Urethra
Male with Urethral Bleeding due to Insertion of Telephone Wire in Urethra
2466 Reached4 Comments6 Likes
Spinal Anesthesia in Elderly Patient
Spinal Anesthesia in Elderly Patient
4200 Reached10 Comments7 Likes