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JIMD reports

Showing results (591-600 of 1,250) with videos related to

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JIMD Reports|July 6, 2026
Are Functional Brain Networks Sensitive to High Phenylalanine in Adults With Phenylketonuria?Vanessa Vallesi, Yosuke Morishima, Laura Winiger, et al.
JIMD Reports|March 17, 2015
Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with AlkaptonuriaBirgitta Olsson, Trevor F Cox, Eftychia E Psarelli, et al.
JIMD Reports|July 14, 2021
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal settingMaria Fuller, David Ketteridge
JIMD Reports|July 14, 2021
Human d-lactate dehydrogenase deficiency by <i>LDHD</i> mutation in a patient with neurological manifestations and mitochondrial complex IV deficiencyAnna Ka-Yee Kwong, Sheila Suet-Na Wong, Richard J T Rodenburg, et al.
JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.
JIMD Reports|January 13, 2023
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseasesMary Kay Koenig, Sam Nick Russo, Kim L McBride, et al.
JIMD Reports|January 13, 2023
Infantile-onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotypeMary Riedy, Jeff F Zhang, Taosheng Huang, et al.
JIMD Reports|January 13, 2023
Isolated neurological presentations of mevalonate kinase deficiencyEva M M Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel, et al.
JIMD Reports|January 13, 2023
Suicidal attempt with eliglustat overdoseJohannes Nadler, Maren Hermanns-Clausen, Karin Dilger
JIMD Reports|January 13, 2023
The Swedish COG6-CDG experience and a comprehensive literature reviewZhi-Jie Xia, Bobby G Ng, Elizabeth Jennions, et al.
Pageof 125

Showing results (591-600 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|July 6, 2026
Are Functional Brain Networks Sensitive to High Phenylalanine in Adults With Phenylketonuria?Vanessa Vallesi, Yosuke Morishima, Laura Winiger, et al.
JIMD Reports|March 17, 2015
Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with AlkaptonuriaBirgitta Olsson, Trevor F Cox, Eftychia E Psarelli, et al.
JIMD Reports|July 14, 2021
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal settingMaria Fuller, David Ketteridge
JIMD Reports|July 14, 2021
Human d-lactate dehydrogenase deficiency by <i>LDHD</i> mutation in a patient with neurological manifestations and mitochondrial complex IV deficiencyAnna Ka-Yee Kwong, Sheila Suet-Na Wong, Richard J T Rodenburg, et al.
JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.
JIMD Reports|January 13, 2023
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseasesMary Kay Koenig, Sam Nick Russo, Kim L McBride, et al.
JIMD Reports|January 13, 2023
Infantile-onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotypeMary Riedy, Jeff F Zhang, Taosheng Huang, et al.
JIMD Reports|January 13, 2023
Isolated neurological presentations of mevalonate kinase deficiencyEva M M Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel, et al.
JIMD Reports|January 13, 2023
Suicidal attempt with eliglustat overdoseJohannes Nadler, Maren Hermanns-Clausen, Karin Dilger
JIMD Reports|January 13, 2023
The Swedish COG6-CDG experience and a comprehensive literature reviewZhi-Jie Xia, Bobby G Ng, Elizabeth Jennions, et al.
Pageof 125