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JIMD Reports
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September 7, 2018
Reversible Cerebral White Matter Abnormalities in Homocystinuria
Naila Ismayilova, Andrew D MacKinnon, Helen Mundy, et al.
JIMD Reports
|
January 2, 2026
Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP
Denise Devore, Juan Ruanova, Walter Voegtli, et al.
JIMD Reports
|
November 19, 2016
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability
Austin Larson, James D Weisfeld-Adams, Tim A Benke, et al.
JIMD Reports
|
November 19, 2016
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants
Sarah U Morton, Edward G Neilan, Roy W A Peake, et al.
JIMD Reports
|
September 13, 2014
LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway
Erland Arning, Teodoro Bottiglieri
JIMD Reports
|
September 13, 2014
Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team
Sumaira Malik, Sinead NiMhurchadha, Christina Jackson, et al.
JIMD Reports
|
January 9, 2015
Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessments
Virginia G Wadley, Leslie A McClure, David G Warnock, et al.
JIMD Reports
|
December 19, 2014
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)
Adrian Quartel, Christian J Hendriksz, Rossella Parini, et al.
JIMD Reports
|
September 1, 2017
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan
Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, et al.
JIMD Reports
|
October 15, 2017
Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis
E Rivers, B C Reynolds, S Bunn, et al.
Page
of 127
Search research articles
Search
Showing results (121-130 of 1,270) with videos related to
Sort By:
Page
of 127
JIMD Reports
|
September 7, 2018
Reversible Cerebral White Matter Abnormalities in Homocystinuria
Naila Ismayilova, Andrew D MacKinnon, Helen Mundy, et al.
JIMD Reports
|
January 2, 2026
Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP
Denise Devore, Juan Ruanova, Walter Voegtli, et al.
JIMD Reports
|
November 19, 2016
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability
Austin Larson, James D Weisfeld-Adams, Tim A Benke, et al.
JIMD Reports
|
November 19, 2016
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants
Sarah U Morton, Edward G Neilan, Roy W A Peake, et al.
JIMD Reports
|
September 13, 2014
LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway
Erland Arning, Teodoro Bottiglieri
JIMD Reports
|
September 13, 2014
Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care Team
Sumaira Malik, Sinead NiMhurchadha, Christina Jackson, et al.
JIMD Reports
|
January 9, 2015
Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessments
Virginia G Wadley, Leslie A McClure, David G Warnock, et al.
JIMD Reports
|
December 19, 2014
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)
Adrian Quartel, Christian J Hendriksz, Rossella Parini, et al.
JIMD Reports
|
September 1, 2017
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan
Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, et al.
JIMD Reports
|
October 15, 2017
Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis
E Rivers, B C Reynolds, S Bunn, et al.
Page
of 127