MRI in Infantile Krabbe Disease

by J Gordon Millichap
Published 1993-02-01

Psychosine, the cytotoxic sphingolipid that accumulates in globoid cell leukodystrophy, alters membrane architecture

by Jacqueline A. Hawkins-Salsbury, Archana R. Parameswar, Xuntian Jiang, Paul H. Schlesinger, Ernesto Bongarzone, Daniel S. Ory, Alexei V. Demchenko, Mark S. Sands
Published 2013-12-01

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

by Camille S. Corre, Dietrich Matern, Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Joseph J. Orsini, Robert Thompson-Stone
Published 2021-05-01

Achievements and beyond: Scientific trajectory of Professor Mohammad A. Rafi

by Yadollah Omidi, Abass Alavi
Published 2021-01-01

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

by Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins, Joseph J. Orsini
Published 2018-02-01

Adult‐onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report

by Zhou Xia, Yin Wenwen, Yu Xianfeng, Hu Panpan, Zhu Xiaoqun, Sun Zhongwu
Published 2020-09-01

Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease

by Zackary Herbst, Coleman T. Turgeon, Chad Biski, Hamid Khaledi, Nancy B. Shoemaker, Patrick D. DeArmond, Sara Smith, Joseph Orsini, Dietrich Matern, Michael H. Gelb
Published 2020-03-01

Array CGH improves detection of mutations in the <it>GALC</it> gene associated with Krabbe disease

by Tanner Alice K, Chin Ephrem L H, Duffner Patricia K, Hegde Madhuri
Published 2012-06-01

Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned

by Joseph J. Orsini, Michele Caggana
Published 2017-03-01

Simultaneous quantification of lyso-neutral glycosphingolipids and neutral glycosphingolipids by N-acetylation with [3H]acetic anhydride

by Jacques Bodennec, Selena Trajkovic-Bodennec, Anthony H. Futerman
Published 2003-07-01

Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease

by Carla Andreia Teixeira, Catarina Oliveira Miranda, Vera Filipe Sousa, Telma Emanuela Santos, Ana Rita Malheiro, Melani Solomon, Gustavo H. Maegawa, Pedro Brites, Mónica Mendes Sousa
Published 2014-06-01

Retrovirus-Mediated Gene Transfer and Galactocerebrosidase Uptake into Twitcher Glial Cells Results in Appropriate Localization and Phenotype Correction

by A. Luddi, M. Volterrani, M. Strazza, A. Smorlesi, M.A. Rafi, J. Datto, D.A. Wenger, E. Costantino-Ceccarini
Published 2001-08-01

Parental beliefs and attitudes toward false positive newborn screening results for Krabbe disease: A qualitative study

by Peterson, Laiken E.
Published 2019

Usefulness of dexmedetomidine to prevent emergence agitation in a patient with Krabbe disease: a case report

by Junichi Saito, Futoshi Kimura, Hiroshi Hashimoto, Tetsuhiro Sakai, Kazuyoshi Hirota
Published 2018-04-01

GALC mutations in Chinese patients with late-onset Krabbe disease: a case report

by Shunzhi Zhuang, Lingen Kong, Caiming Li, Likun Chen, Tingting Zhang
Published 2019-06-01

Advances in the Diagnosis and Treatment of Krabbe Disease

by David A Wenger, Paola Luzi, Mohammad A. Rafi
Published 2021-08-01

Dysregulated autophagy as a new aspect of the molecular pathogenesis of Krabbe disease

by Ambra Del Grosso, Lucia Angella, Ilaria Tonazzini, Aldo Moscardini, Nadia Giordano, Matteo Caleo, Silvia Rocchiccioli, Marco Cecchini
Published 2019-09-01

Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease

by Naoko Inamura, Momoko Kito, Shinji Go, Soichiro Kishi, Masanori Hosokawa, Kiyofumi Asai, Nobuyuki Takakura, Hirohide Takebayashi, Junko Matsuda, Yasushi Enokido
Published 2018-12-01

Psychosine induces the dephosphorylation of neurofilaments by deregulation of PP1 and PP2A phosphatases

by Ludovico Cantuti-Castelvetri, Hongling Zhu, Maria I. Givogri, Robstein L. Chidavaenzi, Aurora Lopez-Rosas, Ernesto R. Bongarzone
Published 2012-05-01

Visual System Impairment in a Mouse Model of Krabbe Disease: The Twitcher Mouse

by Ilaria Tonazzini, Chiara Cerri, Ambra Del Grosso, Sara Antonini, Manuela Allegra, Matteo Caleo, Marco Cecchini
Published 2021-12-01