Results 41 to 50 of about 4,798 (243)
Insuficiencia hepática aguda asociada a enfermedades metabólicas hereditarias en ninos pequenos [PDF]
, 2017 INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
Dias-Costa, F +6 more
core +1 more source
Orphanet Journal of Rare Diseases, 2009 A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged liver.
Kvittingen Eli-Anne +4 more
doaj +1 more source
Total hepatectomy and liver transplant for hepatocellular adenomatosis and focal nodular hyperplasia. [PDF]
, 1992 Extensive hepatocellular adenomatosis (HA) and focal nodular hyperplasia (FNH) represent a proliferation of hepatic cells that occurs most frequently in women.
Baum +30 more
core +4 more sources
Molecules, 2021 Nitisinone (NTBC) is used in the treatment of disorders affecting the tyrosine pathway, including hereditary tyrosinemia type I, alkaptonuria, and neuroblastoma.
Magdalena Danek +2 more
doaj +1 more source
Liver transplantation before 1 year of age [PDF]
, 1987 Since 1981, 20 infants younger than 1 year of age received 26 orthotopic liver transplants. Immunosuppression was with cyclosporine and corticosteroids. Thirteen (65%) of the reciplents were discharged from the hospital.
Ascher +18 more
core +1 more source
Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]
, 2017 Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang +3 more
core +1 more source
Dietary Considerations in Tyrosinemia Type I
, 2017 Since the introduction of 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1, 3-cyclohexanedione (NTBC), life expectancy of HT1 patients greatly improved. However, due to treatment with NTBC, tyrosine concentrations greatly increase. As a consequence to possible neurocognitive problems, the main objective of dietary therapy in HT1 is to provide adequate ...
van Spronsen, Francjan J. +3 more
openaire +2 more sources
Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1
International Journal of Neonatal ScreeningHereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic comorbidities. Early detection of this disorder is possible with newborn screening (NBS).
Barbra Charina V. Cavan +4 more
doaj +1 more source
Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia
Revista Finlay, 2023 Foundation: hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. Due to its metabolic complexity, its confirmation requires a set of highly expensive
Iovana Fuentes Cortés +2 more
doaj
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, 2022 We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín‐Rivada +19 more
doaj +1 more source