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Journal of Clinical Laboratory Analysis
|
December 27, 2024
Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry
Franklin Ducatez, Wladimir Mauhin, Jules Ottaviani, et al.
The American Journal of Gastroenterology
|
February 26, 2026
Histogenetic Classification Predicts Outcomes in 130 Adults with Chronic Intestinal Pseudo-Obstruction
Minh-Chau Ta, Dominique Cazals-Hatem, Lore Billiauws, et al.
Multiple Sclerosis and Related Disorders
|
May 30, 2025
Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature
Daniele Mandia, Natalia Shor, Alise K Carlson, et al.
Frontiers in Genetics
|
February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
Annals of Clinical and Translational Neurology
|
April 27, 2026
Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall
Maria Makrygianni, Cecile Pagan, Antony Citterio-Quentin, et al.
Investigative Ophthalmology & Visual Science
|
May 3, 2021
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Neringa Jurkute, Priya D Shanmugarajah, Marios Hadjivassiliou, et al.
Orphanet Journal of Rare Diseases
|
October 5, 2018
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, et al.
Journal of Inherited Metabolic Disease
|
January 8, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults
Daniele Mandia, Metodi D Metodiev, Jean-François Benoist, et al.
Elife
|
March 4, 2021
Sushi domain-containing protein 4 controls synaptic plasticity and motor learning
Inés González-Calvo, Keerthana Iyer, Mélanie Carquin, et al.
Orphanet Journal of Rare Diseases
|
March 16, 2019
Betaine anhydrous in homocystinuria: results from the RoCH registry
Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, et al.
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Search research articles
Search
Showing results (31-40 of 52) with videos related to
Sort By:
Page
of 6
Journal of Clinical Laboratory Analysis
|
December 27, 2024
Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry
Franklin Ducatez, Wladimir Mauhin, Jules Ottaviani, et al.
The American Journal of Gastroenterology
|
February 26, 2026
Histogenetic Classification Predicts Outcomes in 130 Adults with Chronic Intestinal Pseudo-Obstruction
Minh-Chau Ta, Dominique Cazals-Hatem, Lore Billiauws, et al.
Multiple Sclerosis and Related Disorders
|
May 30, 2025
Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature
Daniele Mandia, Natalia Shor, Alise K Carlson, et al.
Frontiers in Genetics
|
February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
Lamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
Annals of Clinical and Translational Neurology
|
April 27, 2026
Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall
Maria Makrygianni, Cecile Pagan, Antony Citterio-Quentin, et al.
Investigative Ophthalmology & Visual Science
|
May 3, 2021
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Neringa Jurkute, Priya D Shanmugarajah, Marios Hadjivassiliou, et al.
Orphanet Journal of Rare Diseases
|
October 5, 2018
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, et al.
Journal of Inherited Metabolic Disease
|
January 8, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults
Daniele Mandia, Metodi D Metodiev, Jean-François Benoist, et al.
Elife
|
March 4, 2021
Sushi domain-containing protein 4 controls synaptic plasticity and motor learning
Inés González-Calvo, Keerthana Iyer, Mélanie Carquin, et al.
Orphanet Journal of Rare Diseases
|
March 16, 2019
Betaine anhydrous in homocystinuria: results from the RoCH registry
Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, et al.
Page
of 6