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Last Updated: 10/31/2025

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Found 289 publications

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

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

Outcomes of kidney transplantation in patients with lysinuric protein intolerance.

Outcomes of kidney transplantation in patients with lysinuric protein intolerance.

Journal: Clinical kidney journal
Published: September 17, 2024

Hemophagocytic Lymphohistiocytosis in Lysinuric Protein Intolerance.

Hemophagocytic Lymphohistiocytosis in Lysinuric Protein Intolerance.

Journal: Indian journal of pediatrics
Published: July 09, 2024

N7-methyladenosine-induced SLC7A7 serves as a prognostic biomarker in pan-cancer and promotes CRC progression in colorectal cancer.

N7-methyladenosine-induced SLC7A7 serves as a prognostic biomarker in pan-cancer and promotes CRC progression in colorectal cancer.

Journal: Scientific reports
Published: July 08, 2024

Digital clubbing without hypoxia for lysinuric protein intolerance.

Digital clubbing without hypoxia for lysinuric protein intolerance.

Journal: European journal of medical genetics
Published: June 21, 2024

Rare genetic interstitial lung diseases: a pictorial essay.

Rare genetic interstitial lung diseases: a pictorial essay.

Journal: European respiratory review : an official journal of the European Respiratory Society
Published: May 10, 2024
Showing 1-12 of 289

Last Updated: 10/31/2025