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JIMD reports

Showing results (781-790 of 1,250) with videos related to

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JIMD Reports|November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patientsSheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, et al.
JIMD Reports|November 18, 2020
Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatmentEric P Brass, Bianca M L Stelten, Aad Verrips
JIMD Reports|February 20, 2020
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panelGloria Muñoz, David García-Seisdedos, Crina Ciubotariu, et al.
JIMD Reports|February 20, 2020
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithmPatryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska-Świątkowska, et al.
JIMD Reports|February 20, 2020
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literatureFemke Molema, Monique Williams, Janneke Langendonk, et al.
JIMD Reports|March 11, 2018
Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase DeficiencyLouise Crowe, Vicki Anderson, Winita Hardikar, et al.
JIMD Reports|January 31, 2018
Beneficial Effect of BH<sub>4</sub> Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12Monique G M de Sain-van der Velden, Willemijn F E Kuper, Marie-Anne Kuijper, et al.
JIMD Reports|December 16, 2017
Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an ExampleAdam C Cotton, R B Bell, H A Jinnah
JIMD Reports|March 11, 2020
Cavitating and tigroid-like leukoencephalopathy in a case of <i>NDUFA2</i>-related disorderMarianna Alagia, Gerarda Cappuccio, Annalaura Torella, et al.
JIMD Reports|March 11, 2020
The c.1A > C start codon mutation in <i>CLN3</i> is associated with a protracted disease courseWillemijn F E Kuper, Claudia van Alfen, Linda van Eck, et al.
Pageof 125

Showing results (781-790 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patientsSheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, et al.
JIMD Reports|November 18, 2020
Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatmentEric P Brass, Bianca M L Stelten, Aad Verrips
JIMD Reports|February 20, 2020
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panelGloria Muñoz, David García-Seisdedos, Crina Ciubotariu, et al.
JIMD Reports|February 20, 2020
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithmPatryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska-Świątkowska, et al.
JIMD Reports|February 20, 2020
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literatureFemke Molema, Monique Williams, Janneke Langendonk, et al.
JIMD Reports|March 11, 2018
Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase DeficiencyLouise Crowe, Vicki Anderson, Winita Hardikar, et al.
JIMD Reports|January 31, 2018
Beneficial Effect of BH<sub>4</sub> Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12Monique G M de Sain-van der Velden, Willemijn F E Kuper, Marie-Anne Kuijper, et al.
JIMD Reports|December 16, 2017
Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an ExampleAdam C Cotton, R B Bell, H A Jinnah
JIMD Reports|March 11, 2020
Cavitating and tigroid-like leukoencephalopathy in a case of <i>NDUFA2</i>-related disorderMarianna Alagia, Gerarda Cappuccio, Annalaura Torella, et al.
JIMD Reports|March 11, 2020
The c.1A > C start codon mutation in <i>CLN3</i> is associated with a protracted disease courseWillemijn F E Kuper, Claudia van Alfen, Linda van Eck, et al.
Pageof 125