Kimberly A. Kripps

Medical Genetics | Pediatrics

3181 Sw Sam Jackson Park Rd
Portland, OR 97239

Last Updated: 09/26/2026

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Found 10 publications

Letter to the editor: Newborn screening for low blood citrulline leads to diagnosis of ornithine aminotransferase deficiency.

Letter to the editor: Newborn screening for low blood citrulline leads to diagnosis of ornithine aminotransferase deficiency.

Journal: Molecular genetics and metabolism

Published: April 03, 2026

Feasibility of newborn screening for pyridoxine-dependent epilepsy.

Feasibility of newborn screening for pyridoxine-dependent epilepsy.

Journal: Molecular genetics and metabolism

Published: October 19, 2024

Rubella virus-associated necrotizing granulomatous inflammation with extensive eyelid, ocular, and orbital involvement.

Rubella virus-associated necrotizing granulomatous inflammation with extensive eyelid, ocular, and orbital involvement.

Journal: Pediatric dermatology

Published: October 16, 2022

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Journal: Nature genetics

Published: October 11, 2021

A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.

A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia.

Journal: Journal of investigative medicine high impact case reports

Published: May 10, 2021

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.

Journal: Journal of inherited metabolic disease

Published: April 05, 2021

REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.

REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.

Journal: Molecular genetics and metabolism

Published: December 29, 2020

Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease.

Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease.

Journal: Journal of child neurology

Published: June 03, 2020

A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.

A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.

Journal: Molecular genetics and metabolism

Published: April 08, 2020

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 20, 2018

Showing 1-10 of 10

Last Updated: 09/26/2026