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JIMD reports

Showing results (311-320 of 1,270) with videos related to

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JIMD Reports|June 27, 2019
Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophyThomas J Langan, Amy Barczykowski, Kabir Jalal, et al.
JIMD Reports|August 12, 2018
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning DifficultiesR Anderson, S Rust, J Ashworth, et al.
JIMD Reports|January 13, 2023
Pediatric hepatocellular carcinoma associated with Niemann-Pick disease type C: Case report and literature reviewSoojin Hwang, Yunha Choi, Beom Hee Lee, et al.
JIMD Reports|January 13, 2023
Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in GermanySimona Murko, Asra Dadkhah Aseman, Friederike Reinhardt, et al.
JIMD Reports|January 13, 2023
Clinical features of Japanese patients with acute hepatic porphyriaYutaka Horie, Yuka Yasuoka, Tomohide Adachi
JIMD Reports|January 13, 2023
Recommendations on the follow-up of patients with Gaucher disease in Spain: Results from a Delphi surveyPilar Giraldo, Marcio Andrade-Campos, Montserrat Morales, et al.
JIMD Reports|January 13, 2023
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case reportKatsuyuki Yokoi, Yoko Nakajima, Yoshihisa Takahashi, et al.
JIMD Reports|January 13, 2023
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newbornsLoek L Crefcoeur, M Rebecca Heiner-Fokkema, Rose E Maase, et al.
JIMD Reports|May 14, 2015
A Novel Catastrophic Presentation of X-Linked AdrenoleukodystrophyM M Vawter-Lee, B E Hallinan, T A Burrow, et al.
JIMD Reports|May 14, 2015
Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian PopulationsT D Da Silva-José, K J Juárez-Rendón, J A Juárez-Osuna, et al.
Pageof 127

Showing results (311-320 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|June 27, 2019
Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophyThomas J Langan, Amy Barczykowski, Kabir Jalal, et al.
JIMD Reports|August 12, 2018
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning DifficultiesR Anderson, S Rust, J Ashworth, et al.
JIMD Reports|January 13, 2023
Pediatric hepatocellular carcinoma associated with Niemann-Pick disease type C: Case report and literature reviewSoojin Hwang, Yunha Choi, Beom Hee Lee, et al.
JIMD Reports|January 13, 2023
Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in GermanySimona Murko, Asra Dadkhah Aseman, Friederike Reinhardt, et al.
JIMD Reports|January 13, 2023
Clinical features of Japanese patients with acute hepatic porphyriaYutaka Horie, Yuka Yasuoka, Tomohide Adachi
JIMD Reports|January 13, 2023
Recommendations on the follow-up of patients with Gaucher disease in Spain: Results from a Delphi surveyPilar Giraldo, Marcio Andrade-Campos, Montserrat Morales, et al.
JIMD Reports|January 13, 2023
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case reportKatsuyuki Yokoi, Yoko Nakajima, Yoshihisa Takahashi, et al.
JIMD Reports|January 13, 2023
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newbornsLoek L Crefcoeur, M Rebecca Heiner-Fokkema, Rose E Maase, et al.
JIMD Reports|May 14, 2015
A Novel Catastrophic Presentation of X-Linked AdrenoleukodystrophyM M Vawter-Lee, B E Hallinan, T A Burrow, et al.
JIMD Reports|May 14, 2015
Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian PopulationsT D Da Silva-José, K J Juárez-Rendón, J A Juárez-Osuna, et al.
Pageof 127