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JIMD Reports
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July 1, 2015
Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis
Ertugrul Kiykim, Kenan Barut, Mehmet Serif Cansever, et al.
JIMD Reports
|
May 27, 2015
CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency
A Torres, S A Newton, B Crompton, et al.
JIMD Reports
|
August 3, 2016
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion
C Bursle, D Brown, J Cardinal, et al.
JIMD Reports
|
November 7, 2022
Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series
Maryam Ziadlou, Anita MacDonald
JIMD Reports
|
November 7, 2022
MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity
Bela Rui Turk, Laila Marie Poisson, Christina Linnea Nemeth, et al.
JIMD Reports
|
December 8, 2025
Course of Pregnancy in a Woman With Familial Chylomicronemia Syndrome Treated With Plozasiran, a Small Interfering RNA Against ApoC3
Miriam Larouche, Diane Brisson, Nathalie Roy, et al.
JIMD Reports
|
January 21, 2026
Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia
M M Crenshaw, O M D'Annibale, V Martucci, et al.
JIMD Reports
|
January 13, 2026
Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons
Richard Webster, Bindu Parayil Sankaran, Sushil Bandodkar, et al.
JIMD Reports
|
December 29, 2025
Retrospective Case Series of Fulminant Metabolic Crisis in GSDIA: Persistent Lactic Acidosis Despite Correction of Hypoglycemia May Reflect Secondary Mitochondrial Dysfunction
Herodes Guzman, Nicole Stewart, Lauren Mitteer, et al.
JIMD Reports
|
January 29, 2026
A Novel <i>PCK1</i> Gene Variant Associated With Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Two Siblings With Different Clinical Presentations
Lauma Vasiļevska, Ieva Puķīte, Madara Auzenbaha, et al.
Page
of 125
Search research articles
Search
Showing results (561-570 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
July 1, 2015
Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis
Ertugrul Kiykim, Kenan Barut, Mehmet Serif Cansever, et al.
JIMD Reports
|
May 27, 2015
CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency
A Torres, S A Newton, B Crompton, et al.
JIMD Reports
|
August 3, 2016
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion
C Bursle, D Brown, J Cardinal, et al.
JIMD Reports
|
November 7, 2022
Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series
Maryam Ziadlou, Anita MacDonald
JIMD Reports
|
November 7, 2022
MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity
Bela Rui Turk, Laila Marie Poisson, Christina Linnea Nemeth, et al.
JIMD Reports
|
December 8, 2025
Course of Pregnancy in a Woman With Familial Chylomicronemia Syndrome Treated With Plozasiran, a Small Interfering RNA Against ApoC3
Miriam Larouche, Diane Brisson, Nathalie Roy, et al.
JIMD Reports
|
January 21, 2026
Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia
M M Crenshaw, O M D'Annibale, V Martucci, et al.
JIMD Reports
|
January 13, 2026
Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons
Richard Webster, Bindu Parayil Sankaran, Sushil Bandodkar, et al.
JIMD Reports
|
December 29, 2025
Retrospective Case Series of Fulminant Metabolic Crisis in GSDIA: Persistent Lactic Acidosis Despite Correction of Hypoglycemia May Reflect Secondary Mitochondrial Dysfunction
Herodes Guzman, Nicole Stewart, Lauren Mitteer, et al.
JIMD Reports
|
January 29, 2026
A Novel <i>PCK1</i> Gene Variant Associated With Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Two Siblings With Different Clinical Presentations
Lauma Vasiļevska, Ieva Puķīte, Madara Auzenbaha, et al.
Page
of 125