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 (581-590 of 1,250) with videos related to

Pageof 125
Sort By:
JIMD Reports|September 13, 2023
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal womanMalak Ali Alghamdi, Anne O'Donnell-Luria, Naif A Almontashiri, et al.
JIMD Reports|September 13, 2023
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature reviewOliver Heath, Dinusha Pandithan, James Pitt, et al.
JIMD Reports|April 16, 2026
Teriparatide in Two Patients With Mucopolysaccharidosis Type IVBMark Wijnen, Evert F S van Velsen, J Gert-Jan Milhous, et al.
JIMD Reports|May 21, 2026
Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine LevelsSharmila Kiss, Gary Lazarovski, Maureen Evans
JIMD Reports|January 8, 2024
Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disordersMaren Thiel, Sven F Garbade, Stefanie Rosenbaum-Fabian, et al.
JIMD Reports|April 29, 2026
Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C DiseaseArthavan Selvanathan, Ashley Hertzog, Jacqui Russell, et al.
JIMD Reports|December 13, 2016
Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in AlkaptonuriaAdam M Taylor, Koen P Vercruysse
JIMD Reports|April 15, 2018
Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent FeaturesBryony Langford, Megan Besford, Aimée Hall, et al.
JIMD Reports|November 20, 2019
Intellectual functioning in alpha-mannosidosisSara S Cathey, Sara M Sarasua, Richard Simensen, et al.
JIMD Reports|January 24, 2015
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric AciduriaPankaj Prasun, Sarah Young, Gajja Salomons, et al.
Pageof 125

Showing results (581-590 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|September 13, 2023
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal womanMalak Ali Alghamdi, Anne O'Donnell-Luria, Naif A Almontashiri, et al.
JIMD Reports|September 13, 2023
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature reviewOliver Heath, Dinusha Pandithan, James Pitt, et al.
JIMD Reports|April 16, 2026
Teriparatide in Two Patients With Mucopolysaccharidosis Type IVBMark Wijnen, Evert F S van Velsen, J Gert-Jan Milhous, et al.
JIMD Reports|May 21, 2026
Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine LevelsSharmila Kiss, Gary Lazarovski, Maureen Evans
JIMD Reports|January 8, 2024
Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disordersMaren Thiel, Sven F Garbade, Stefanie Rosenbaum-Fabian, et al.
JIMD Reports|April 29, 2026
Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C DiseaseArthavan Selvanathan, Ashley Hertzog, Jacqui Russell, et al.
JIMD Reports|December 13, 2016
Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in AlkaptonuriaAdam M Taylor, Koen P Vercruysse
JIMD Reports|April 15, 2018
Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent FeaturesBryony Langford, Megan Besford, Aimée Hall, et al.
JIMD Reports|November 20, 2019
Intellectual functioning in alpha-mannosidosisSara S Cathey, Sara M Sarasua, Richard Simensen, et al.
JIMD Reports|January 24, 2015
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric AciduriaPankaj Prasun, Sarah Young, Gajja Salomons, et al.
Pageof 125