Wasantha K. Ranatunga - Mayo Foundation for Medical Education and Research

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论文共 37 篇作者统计合作学者相似作者

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TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient

Jorge Roman Corona-Rivera,Ivan Martinez-Duncker,Eva Morava,Wasantha Ranatunga,Roberta Salinas-Marin,Ana Maria Gonzalez-Jaimes, Katia Alejandra Castillo-Reyes,Christian Pena-Padilla,Lucina Bobadilla-Morales,Alfredo Corona -Rivera,Mireya Orozco-Vela,Sinhue Alejandro Brukman-Jimenez

MOLECULAR GENETICS AND METABOLISMno. 1 (2024): 108469-108469

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Normal transferrin glycosylation does not rule out severe ALG1 deficiency

Inez Bosnyak,Mustafa Sadek,Wasantha Ranatunga,Tamas Kozicz,Eva Morava

JIMD reportsno. 3 (2024): 135-143

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Case Report: Novel Genotype of ALG2-CDG and Confirmation of the Heptasaccharide Glycan (Neuac-Gal-glcnac-man2-glcnac2) As a Specific Diagnostic Biomarker

Ivan Martinez Duncker, Denisse Mata-Salgado,Ibrahim Shammas,Wasantha Ranatunga,Earnest James Paul Daniel,Mario E. Cruz Munoz, Melania Abreu,Hector Mora-Montes,Miao He,Eva Morava, Gildardo Zafra de la Rosa

FRONTIERS IN GENETICS (2024)

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N-glycoproteomic and Proteomic Alterations in SRD5A3-deficient Fibroblasts

Kishore Garapati,Wasantha Ranatunga,Neha Joshi,Rohit Budhraja, Saniha Sabu, Kristin A Kantautas, Graeme Preston, Ethan O Perlstein,Tamas Kozicz,Eva Morava,Akhilesh Pandey

Glycobiologyno. 11 (2024)

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Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient with Progressive Spastic Paraplegia

Aisling Quinlan,Lance Rodan,Elizabeth Barkoudah,Amy Tam,Afshin Saffari,Ibrahim Shammas,Wasantha Ranatunga,Eva Morava-Kozicz, Devin Oglesbee, Gerald Berry,Darius Ebrahimi-Fakhari,Siddharth Srivastava

American journal of medical genetics Part App.e63890-e63890, (2024)

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Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy

Judit Kárteszi,Alban Ziegler,Mariann Tihanyi,Beatrix Elmont,Yuebo Zhang, Barbara Patócs,Mária Judit Molnár,Gábor Méhes,Kirsty Wells,Rita Jakus,Beáta Bessenyei,Wasantha Ranatunga,Éva Morava

American Journal of Medical Genetics - Part Ano. 9 (2023): 2428-2432

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Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy

Judit Kárteszi,Alban Ziegler,Mariann Tihanyi,Beatrix Elmont,Yuebo Zhang, Barbara Patócs,Mária Judit Molnár,Gábor Méhes,Kirsty Wells,Rita Jakus,Beáta Bessenyei,Wasantha Ranatunga,Éva Morava

American journal of medical genetics. Part A (2023)

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Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG

Anna N. Ligezka,Rohit Budhraja,Yurika Nishiyama,Fabienne C. Fiesel,Graeme Preston,Andrew Edmondson,Wasantha Ranatunga,Johan L. K. Van Hove,Jens O. Watzlawik,Wolfdieter Springer,Akhilesh Pandey,Eva Morava,Tamas Kozicz

Genes（2023）

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P341: Identification of Novel Variants and Phenotypic Expansion in OGT-CDG

Jan Verheijen,Lotte Vanhye, Ayesha Niaz Shaikh,Silvia Radenkovic,Wasantha Ranatunga,Pavel Pichurin,Joan Steyermark,Eric Klee,Eva Morava-Kozicz

Genetics in Medicine Openno. 1 (2023): 100369-100369

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Personalized medicine in erdheim-chester disease without mapk pathway alterations

Katherine Smith,Patrick McGarrah,Karen Rech,Aishwarya Ravindran,Jason Young,Wasantha Ranatunga,Julio Sartori-Valinotti,Gaurav Goyal,Ronald Go,Jithma Abeykoon

PEDIATRIC BLOOD & CANCER (2023): S42-S43

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