Search research articles
Contact Us
Filters
Showing results (881-890 of 1,250) with videos related to
Page
of 125
Sort By:
JIMD Reports
|
March 6, 2024
Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study
Nahya Awada, Martin Holcik
JIMD Reports
|
March 6, 2024
Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots
Rohit Hirachan, Alistair Horman, Derek Burke, et al.
JIMD Reports
|
May 13, 2024
Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital
Gustavo Marquezani Spolador, Clarissa Bueno, Rita Tiziana Verardo Polastrini, et al.
JIMD Reports
|
November 6, 2023
Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, et al.
JIMD Reports
|
February 25, 2026
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
Sophie Manoy, Tahlee Minto, Kalliope Demetriou, et al.
JIMD Reports
|
November 8, 2024
Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine
Katarina Šikić, Tessa M A Peters, Udo Engelke, et al.
JIMD Reports
|
June 27, 2016
Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review
Keiko Yamaguchi, Rie Wakimizu, Mitsuru Kubota
JIMD Reports
|
April 21, 2018
Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress
Olivia Ambler, Emma Medford, Dougal J Hare
JIMD Reports
|
May 11, 2026
Progressive White Matter Changes in Mitochondrial Disease: A Quantitative MRI Study
Nora Mickelsson, Jussi Hirvonen, Mika H Martikainen
JIMD Reports
|
February 3, 2026
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
Sharmila Kiss, Richard J Leventer, Cormac Duff, et al.
Page
of 125
Search research articles
Search
Showing results (881-890 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
March 6, 2024
Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study
Nahya Awada, Martin Holcik
JIMD Reports
|
March 6, 2024
Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots
Rohit Hirachan, Alistair Horman, Derek Burke, et al.
JIMD Reports
|
May 13, 2024
Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital
Gustavo Marquezani Spolador, Clarissa Bueno, Rita Tiziana Verardo Polastrini, et al.
JIMD Reports
|
November 6, 2023
Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, et al.
JIMD Reports
|
February 25, 2026
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
Sophie Manoy, Tahlee Minto, Kalliope Demetriou, et al.
JIMD Reports
|
November 8, 2024
Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine
Katarina Šikić, Tessa M A Peters, Udo Engelke, et al.
JIMD Reports
|
June 27, 2016
Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review
Keiko Yamaguchi, Rie Wakimizu, Mitsuru Kubota
JIMD Reports
|
April 21, 2018
Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress
Olivia Ambler, Emma Medford, Dougal J Hare
JIMD Reports
|
May 11, 2026
Progressive White Matter Changes in Mitochondrial Disease: A Quantitative MRI Study
Nora Mickelsson, Jussi Hirvonen, Mika H Martikainen
JIMD Reports
|
February 3, 2026
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
Sharmila Kiss, Richard J Leventer, Cormac Duff, et al.
Page
of 125