Lysinuric Protein Intolerance Latest Advances

Find the Latest Research About Lysinuric Protein Intolerance

Last Updated: 04/28/2026

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Found 294 publications

Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum.

Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum.

Journal: BMJ case reports

Published: November 12, 2025

Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.

Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.

Journal: Orphanet journal of rare diseases

Published: August 15, 2025

Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity.

Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity.

Journal: Molecular genetics and metabolism

Published: August 14, 2025

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Journal: Current research in physiology

Published: July 05, 2025

Lysinuric Protein Intolerance (LPI) Presenting with Macrocephaly, Hepatosplenomegaly and Myelosuppression.

Lysinuric Protein Intolerance (LPI) Presenting with Macrocephaly, Hepatosplenomegaly and Myelosuppression.

Journal: Indian journal of pediatrics

Published: May 20, 2025

Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant.

Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant.

Journal: Biochemistry and biophysics reports

Published: April 10, 2025

Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study.

Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study.

Journal: Molecular genetics and metabolism

Published: April 10, 2025

Structural basis for the substrate recognition and transport mechanism of the human y+LAT1-4F2hc transporter complex.

Structural basis for the substrate recognition and transport mechanism of the human y+LAT1-4F2hc transporter complex.

Journal: Science advances

Published: March 19, 2025

Interstitial Lung Disease in Lysinuric Protein Intolerance Diagnosed by a Transbronchial Lung Cryobiopsy.

Interstitial Lung Disease in Lysinuric Protein Intolerance Diagnosed by a Transbronchial Lung Cryobiopsy.

Journal: Internal medicine (Tokyo, Japan)

Published: February 02, 2025

Dual pathogenic mechanisms in lysinuric protein intolerance: Interplay between hyperammonemia and cellular metabolic dysregulation in astrocyte injury.

Dual pathogenic mechanisms in lysinuric protein intolerance: Interplay between hyperammonemia and cellular metabolic dysregulation in astrocyte injury.

Journal: Molecular genetics and metabolism

Published: January 10, 2025

Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.

Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.

Journal: Molecular medicine (Cambridge, Mass.)

Published: November 20, 2024

Lysinuric protein intolerance associated Hemophagocytic Lymphohistiocytosis revealed by bone marrow atypical hemophagocytosis.

Lysinuric protein intolerance associated Hemophagocytic Lymphohistiocytosis revealed by bone marrow atypical hemophagocytosis.

Journal: La Tunisie medicale

Published: October 07, 2024

Showing 1-12 of 294

Last Updated: 04/28/2026