Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

JIMD reports

Showing results (791-800 of 1,250) with videos related to

Pageof 125
Sort By:
JIMD Reports|March 11, 2020
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (<i>CPS1</i>) molecular genetic investigation by RNA sequencingJasmine Isler, Véronique Rüfenacht, Corinne Gemperle, et al.
JIMD Reports|March 17, 2021
Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentationPeter J M Wilson, Lakshminarayan R Ranganath, George Bou-Gharios, et al.
JIMD Reports|March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variationKarlien L M Coene, Corrie Timmer, Susan M I Goorden, et al.
JIMD Reports|March 17, 2021
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomesJuan Politei, Gloria Liliana Porras-Hurtado, Norberto Guelbert, et al.
JIMD Reports|January 21, 2021
Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemiaAndreas Tridimas, Godfrey T Gillett, Sally Pollard, et al.
JIMD Reports|January 21, 2021
Three successful pregnancies in a patient with glycogen storage disease type 0Sarah C Grünert, Stefanie Rosenbaum-Fabian, Luciana Hannibal, et al.
JIMD Reports|January 21, 2021
Impact of trimethylaminuria on daily psychosocial functioningDaniel Roddy, Philomena McCarthy, Darragh Nerney, et al.
JIMD Reports|January 21, 2021
Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trialsElena Lukina, Manisha Balwani, Nadia Belmatoug, et al.
JIMD Reports|November 12, 2021
Distal phalangeal erythema in an infant with biallelic <i>PDSS1</i> mutations: Expanding the phenotype of primary Coenzyme Q<sub>10</sub> deficiencyMarcello Bellusci, Maria Teresa García-Silva, Ana Martínez de Aragón, et al.
JIMD Reports|November 12, 2021
Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case reportKazuyoshi Tomita, Shungo Okamoto, Toshiyuki Seto, et al.
Pageof 125

Showing results (791-800 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|March 11, 2020
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (<i>CPS1</i>) molecular genetic investigation by RNA sequencingJasmine Isler, Véronique Rüfenacht, Corinne Gemperle, et al.
JIMD Reports|March 17, 2021
Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentationPeter J M Wilson, Lakshminarayan R Ranganath, George Bou-Gharios, et al.
JIMD Reports|March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variationKarlien L M Coene, Corrie Timmer, Susan M I Goorden, et al.
JIMD Reports|March 17, 2021
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomesJuan Politei, Gloria Liliana Porras-Hurtado, Norberto Guelbert, et al.
JIMD Reports|January 21, 2021
Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemiaAndreas Tridimas, Godfrey T Gillett, Sally Pollard, et al.
JIMD Reports|January 21, 2021
Three successful pregnancies in a patient with glycogen storage disease type 0Sarah C Grünert, Stefanie Rosenbaum-Fabian, Luciana Hannibal, et al.
JIMD Reports|January 21, 2021
Impact of trimethylaminuria on daily psychosocial functioningDaniel Roddy, Philomena McCarthy, Darragh Nerney, et al.
JIMD Reports|January 21, 2021
Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trialsElena Lukina, Manisha Balwani, Nadia Belmatoug, et al.
JIMD Reports|November 12, 2021
Distal phalangeal erythema in an infant with biallelic <i>PDSS1</i> mutations: Expanding the phenotype of primary Coenzyme Q<sub>10</sub> deficiencyMarcello Bellusci, Maria Teresa García-Silva, Ana Martínez de Aragón, et al.
JIMD Reports|November 12, 2021
Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case reportKazuyoshi Tomita, Shungo Okamoto, Toshiyuki Seto, et al.
Pageof 125