Search Results - "tyrosinemia"

1

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

by Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky, Rebecca C. Ahrens-Nicklas
Published 2020-05-01

Subjects: “...tyrosinemia type I...”

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2

Autism Symptoms Related to Tyrosinemia Type III: A Case Report

by Ayşegül Yolga Tahiroğlu, Neslihan Önemli Mungan, Sunay Fırat, Ayşe Avcı
Published 2008-08-01

Subjects: “...Tyrosinemia type III...”

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3

Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report

by Peyman Eshraghi, Foad Faroughi, Mohammad Karim Alizadeh
Published 2014-09-01

Subjects: “...Type 1 Tyrosinemia...”

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4

Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I

by Jon Gil-Martínez, Iratxe Macias, Luca Unione, Ganeko Bernardo-Seisdedos, Fernando Lopitz-Otsoa, David Fernandez-Ramos, Ana Lain, Arantza Sanz-Parra, José M Mato, Oscar Millet
Published 2021-02-01

Subjects: “...tyrosinemia...”

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5

Neonatal hyperinsulinism in transient and classical forms of tyrosinemia

by Swathi Sethuram, Mark A. Sperling, Jasmine Gujral, Christopher J. Romero
Published 2021-04-01

Subjects: “...Hyperinsulinism in hereditary tyrosinemia I...”

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6

Type 1 tyrosinemia in Finland: a nationwide study

by Linnea Äärelä, Pauliina Hiltunen, Tea Soini, Nina Vuorela, Heini Huhtala, Pasi I. Nevalainen, Markku Heikinheimo, Laura Kivelä, Kalle Kurppa
Published 2020-10-01

Subjects: “...Tyrosinemia...”

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7

First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene

by Kostovski Aco, Zdraveska Nikolina, Tesarova Marketa, Zeman Jiři
Published 2017-01-01

Subjects: “...tyrosinemia type 1...”

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8

Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation

by Seyed Mohsen Dehghani, Mahmood Haghighat, Mohammad Hadi Imanieh, Hossein Karamnejad, Abdorrasoul Malekpour
Published 2013-01-01

Subjects: “...tyrosinemia...”

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9

Peripheral Neuropathy and Hereditary Tyrosinemia

by J Gordon Millichap
Published 1990-03-01

Subjects: “...tyrosinemia...”

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10

The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients

by Willem G. van Ginkel, Hannah E. van Reemst, Nienke S. Kienstra, Anne Daly, Iris L. Rodenburg, Anita MacDonald, Johannes G.M. Burgerhof, Pim de Blaauw, Jennifer van de Krogt, Saikat Santra, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2019-11-01

Subjects: “...tyrosinemia type 1...”

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11

Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

by Havva Yazıcı, Ebru Canda, Esra Er, Mehmet Arda Kılınç, Sema Kalkan Uçar, Bülent Karapınar, Mahmut Çoker
Published 2018-03-01

Subjects: “...Tyrosinemia Type I...”

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12

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

by Habibe Koç Uçar, Gökhan Tümgör, Deniz Kör, Neslihan Önenli Mungan, Fatih Kardaş
Published 2016-06-01

Subjects: “...tyrosinemia type I...”

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13

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)

by Das AM
Published 2017-07-01

Subjects: “...hepatorenal tyrosinemia...”

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14

Cirrose hepática e hemocromatose neonatal secundária associadas à tirosinemia tipo 1: relato de um caso e diagnóstico diferencial com hemocromatose primária hereditária Liver cirrh...

by Ana Paula Camargo Martins, Maria Carolina Pospissil, Maria Cristina Figueroa, Paloma Rincon, Betina Werner, Maria José Serapião, Lúcia de Noronha
Published 2006-04-01

Subjects: “...Tyrosinemia...”

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15

Treatment adherence in tyrosinemia type 1 patients

by Domingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, María L. Couce, Luís Aldámiz-Echevarría
Published 2021-06-01

Subjects: “...Tyrosinemia type 1...”

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16

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review

by Karim N. Daou, Abir Barhoumi, Abir Barhoumi, Amina Bassyouni, Pascale E. Karam, Pascale E. Karam
Published 2021-08-01

Subjects: “...tyrosinemia...”

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17

Hereditary tyrosinemia type 1 in children

by G. V. Volynets, A. V. Nikitin, T. A. Skvortsova
Published 2019-11-01

Subjects: “...hereditary tyrosinemia...”

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18

Unusual dendritic keratitis

by Gokhale Nikhil, Dherai Alpa, Desai Haresh, Ashavaid T
Published 2007-01-01

Subjects: “...tyrosinemia....”

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19

A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation

by Reza Najafi, Neda Mostofizadeh, Mahin Hashemipour
Published 2018-01-01

Subjects: “...tyrosinemia type III...”

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20

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

by Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell
Published 2018-03-01

Subjects: “...Tyrosinemia...”

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