M Laura Duque Lasio

Affiliations

Department of Pathology, University of Utah, Salt Lake City, UT, USA; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh and Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

Publications (3)

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

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

Avec: Adam J Guenzel , Coleman T Turgeon , Kim K Nickander , Amy L White , Dawn S Peck , Gisele B Pino , April L Studinski , Vinod K Prasad , Joanne Kurtzberg , Maria L Escolar , Maria Laura Duque Lasio , Joan E Pellegrino , Ai Sakonju , Rachel E Hickey , Natalie M Shallow , Margie A Ream , Joseph J Orsini , Michael H Gelb , Kimiyo Raymond , Dimitar K Gavrilov , Devin Oglesbee , Piero Rinaldo , Silvia Tortorelli , Dietrich Matern

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

Molecular genetics and metabolism

Avec: M Laura Duque Lasio , Angela C Leshinski , Nicole H Ducich , Leigh Anne Flore , April Lehman , Natasha Shur , Parul B Jayakar , Bryan E Hainline , Alice A Basinger , William G Wilson , George A Diaz , Richard W Erbe , Dwight D Koeberl , Jerry Vockley , Jirair K Bedoyan

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.

JIMD reports

Avec: Rodrigo Tzovenos Starosta , Nino Kerashvili , Cassandra Pruitt , Matthew J Schultz , Suzanne W Boyer , Eva Morava , Maria Laura Duque Lasio , Dorothy K Grange

Réseau de co-auteurs

Maria Laura Duque Lasio 2 collaborations

Adam J Guenzel 1 collaboration

Coleman T Turgeon 1 collaboration

Kim K Nickander 1 collaboration

Amy L White 1 collaboration

Dawn S Peck 1 collaboration

Gisele B Pino 1 collaboration

April L Studinski 1 collaboration

Vinod K Prasad 1 collaboration

Joanne Kurtzberg 1 collaboration

Maria L Escolar 1 collaboration

Joan E Pellegrino 1 collaboration

Ai Sakonju 1 collaboration

Rachel E Hickey 1 collaboration

Natalie M Shallow 1 collaboration

Margie A Ream 1 collaboration

Joseph J Orsini 1 collaboration

Michael H Gelb 1 collaboration

Kimiyo Raymond 1 collaboration

Dimitar K Gavrilov 1 collaboration

Devin Oglesbee 1 collaboration

Piero Rinaldo 1 collaboration

Silvia Tortorelli 1 collaboration

Dietrich Matern 1 collaboration

Angela C Leshinski 1 collaboration

Nicole H Ducich 1 collaboration

Leigh Anne Flore 1 collaboration

April Lehman 1 collaboration

Natasha Shur 1 collaboration

Parul B Jayakar 1 collaboration

Bryan E Hainline 1 collaboration

Alice A Basinger 1 collaboration

William G Wilson 1 collaboration

George A Diaz 1 collaboration

Richard W Erbe 1 collaboration

Dwight D Koeberl 1 collaboration

Jerry Vockley 1 collaboration

Jirair K Bedoyan 1 collaboration

Rodrigo Tzovenos Starosta 1 collaboration

Nino Kerashvili 1 collaboration

Cassandra Pruitt 1 collaboration

Matthew J Schultz 1 collaboration

Suzanne W Boyer 1 collaboration

Eva Morava 1 collaboration

Dorothy K Grange 1 collaboration