Results 21 to 30 of about 6,468 (222)

Pediatric Liver Transplantation: Then and Now [PDF]

, 2020
This paper reviews the past 50 years of liver transplantation in children from the perspective of patient demographics, perioperative patient management, surgical techniques, immunosuppression and patient ...
Banh, DPT, Carullo, PC, Davis, PJ, Tran, LT, Vitu, C   +4 more
core   +1 more source

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

Balkan Medical Journal, 2016
Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase.
Habibe Koç Uçar, Gökhan Tümgör, Deniz Kör, Neslihan Önenli Mungan, Fatih Kardaş   +4 more
doaj   +1 more source

Tyrosinemia in a toddler, a case report

Annals of Hepatology, 2022
Introduction and Objectives: This study aimed to present the case of a toddler with acute-on chronic liver failure probably related to tyrosinemia. Case Summary: a two-year four-month-old male infant presented with gastroenteritis, which three days later
GA Gómez Vidrio, M Lescas Orozco, MR Lara Tostado, I Suárez Ponce, FA Reynoso Zarzosa   +4 more
doaj   +1 more source

A Missense Mutation (Q279R) in the Fumarylacetoacetate Hydrolase Gene, Responsible for Hereditary Tyrosinemia, Acts as a Splicing Mutation [PDF]

, 2012
Background: Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH).
Baklouti, Faouzi, Bergeron, Anne, Dreumont, Natacha, Levy, Harvey Louis, Poudrier, Jacques A, Tanguay, Robert M   +5 more
core   +1 more source

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim), Huijmans, J.G.M. (Jan)   +1 more
core   +2 more sources

Peripheral Neuropathy and Hereditary Tyrosinemia

Pediatric Neurology Briefs, 1990
Neurologic crises in 48 children with tyrosinemia identified on neonatal screening since 1970 are described from the Departments of Genetics, Hopital Sainte Justine, Hopital de Chicoutimi; and Universite Laval, Quebec, Canada.
J Gordon Millichap
doaj   +1 more source

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, Diogo, L, Ferreira, S, Garcia, P, Gonçalves, I, Moinho, R, Pinto, C   +6 more
core   +1 more source

Diagnostic pitfalls in neonatal hypertyrosinemia: a case report

Life Sciences, Medicine and Biomedicine, 2023
Hypertyrosinemia results from abnormality in tyrosine metabolism. Acquired hypertyrosinemia is notably more common than inherited types and typically presents with profile suggestive of secondary aetiology on biochemical testing.
Karniza Khalid, Mohd Fazrul Shafiq Kamarudzaman, Siti Nurwani Ahmad Ridzuan, Nurul Izzati Hamzan, Norzahidah Khalid, Noor Hafizah Hassan   +5 more
doaj   +1 more source

Antibodies towards Tyrosine Amyloid-Like Fibrils Allow Toxicity Modulation and Cellular Imaging of the Assemblies

Molecules, 2018
The amino acid tyrosine forms cytotoxic amyloid-like fibrils by molecular self-assembly. However, the production of antibodies towards tyrosine assemblies, reflecting their presentation to the immune system, was not demonstrated yet.
Dor Zaguri, Topaz Kreiser, Shira Shaham-Niv, Ehud Gazit   +3 more
doaj   +1 more source

The effects of low protein products availability on growth parameters and metabolic control in selected amino acid metabolism disorders patients

International Journal of Pediatrics & Adolescent Medicine, 2018
Background: In Saudi Arabia, a diet for life policy has been adopted in the management of amino acid metabolism disorders for years. However, the specially designed low protein products/medical foods - which are one of the important treatment tools ...
Handoom Bedour Metabolic Dietitian, Megdad Eman Metabolic Dietitian, Al-Qasabi Dana Metabolic Dietitian, Al Mesned Munirah Metabolic Dietitian, Hawary Reem Intensive Care Dietitian, Al-Nufiee Samir Consultant Medical Genetics, Al-Hassnan Zuhair Consultant Medical Genetics, Alsayed Moeenaldeen Dia Chairman, Consultant Medical Genetics, Eldali Abdelmoneim Technical Specialist   +8 more
doaj   +1 more source