Biomaterial Database

Bone marrow transplantation improves symptoms of congenital erythropoietic porphyria even when done post puberty. 2012

Saurabh Singh, and Neena Khanna, and Lalit Kumar

UI	MeSH Term	Description	Entries
D011164	Porphyrias	A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.	Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders
D011627	Puberty	A period in the human life in which the development of the hypothalamic-pituitary-gonadal system takes place and reaches full maturity. The onset of synchronized endocrine events in puberty lead to the capacity for reproduction (FERTILITY), development of secondary SEX CHARACTERISTICS, and other changes seen in ADOLESCENT DEVELOPMENT.	Puberties
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016026	Bone Marrow Transplantation	The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.	Bone Marrow Cell Transplantation,Grafting, Bone Marrow,Transplantation, Bone Marrow,Transplantation, Bone Marrow Cell,Bone Marrow Grafting
D017092	Porphyria, Erythropoietic	An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.	Deficiency of Uroporphyrinogen III Synthase,Erythropoietic Porphyria,Gunther's Disease,Porphyria, Erythropoietic, Congenital,Uroporphyrinogen III Synthase, Deficiency of,Congenital Erythropoietic Porphyria,Gunther Disease,Porphyria, Congenital Erythropoietic,UROS Deficiency,Congenital Erythropoietic Porphyrias,Erythropoietic Porphyria, Congenital,Erythropoietic Porphyrias,Erythropoietic Porphyrias, Congenital,Gunthers Disease,Porphyrias, Congenital Erythropoietic,Porphyrias, Erythropoietic