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JIMD Reports
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September 14, 2022
Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians
Sandra Sirrs, Elisa Fabbro, Annalisa Sechi, et al.
JIMD Reports
|
September 14, 2022
Glutamine energy substrate anaplerosis increases bone density in the Pah<sup>enu2</sup> classical PKU mouse in the absence of phenylalanine restriction
Steven F Dobrowolski, Yu Leng Phua, Irina L Tourkova, et al.
JIMD Reports
|
September 14, 2022
Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency
Marjolaine Champagne, Gabriella A Horvath, Sébastien Perreault, et al.
JIMD Reports
|
September 14, 2022
Autoantibodies in Wilson disease: Impact on clinical course
Magdalena Antczak-Kowalska, Anna Członkowska, Ceren Eyileten, et al.
JIMD Reports
|
September 6, 2021
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil
Charles Marques Lourenço, Janaina Dovidio, Isabela F Lopes, et al.
JIMD Reports
|
September 6, 2021
Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous <i>PC</i> c.1828G > A mutations
Aizeddin A Mhanni, Cheryl Rockman-Greenberg, Lawrence Ryner, et al.
JIMD Reports
|
May 12, 2021
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
Olivia Sarah Strandbech, Allan Lund, Elsebet Ostergaard
JIMD Reports
|
May 12, 2021
A novel homozygous variant in <i>C1QBP</i> causes severe IUGR, edema, and cardiomyopathy in two fetuses
Morten Alstrup, Ida Vogel, Puk Sandager, et al.
JIMD Reports
|
May 12, 2021
Uptake of moss-derived human recombinant GAA in <i>Gaa</i> <sup>-/-</sup> mice
Stefan Hintze, Paulina Dabrowska-Schlepp, Birgit Berg, et al.
JIMD Reports
|
July 1, 2015
The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
Mahdi Amiri, Eva-Maria Kuech, Hadeel Shammas, et al.
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of 127
Search research articles
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Showing results (81-90 of 1,268) with videos related to
Sort By:
Page
of 127
JIMD Reports
|
September 14, 2022
Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians
Sandra Sirrs, Elisa Fabbro, Annalisa Sechi, et al.
JIMD Reports
|
September 14, 2022
Glutamine energy substrate anaplerosis increases bone density in the Pah<sup>enu2</sup> classical PKU mouse in the absence of phenylalanine restriction
Steven F Dobrowolski, Yu Leng Phua, Irina L Tourkova, et al.
JIMD Reports
|
September 14, 2022
Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency
Marjolaine Champagne, Gabriella A Horvath, Sébastien Perreault, et al.
JIMD Reports
|
September 14, 2022
Autoantibodies in Wilson disease: Impact on clinical course
Magdalena Antczak-Kowalska, Anna Członkowska, Ceren Eyileten, et al.
JIMD Reports
|
September 6, 2021
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil
Charles Marques Lourenço, Janaina Dovidio, Isabela F Lopes, et al.
JIMD Reports
|
September 6, 2021
Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous <i>PC</i> c.1828G > A mutations
Aizeddin A Mhanni, Cheryl Rockman-Greenberg, Lawrence Ryner, et al.
JIMD Reports
|
May 12, 2021
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
Olivia Sarah Strandbech, Allan Lund, Elsebet Ostergaard
JIMD Reports
|
May 12, 2021
A novel homozygous variant in <i>C1QBP</i> causes severe IUGR, edema, and cardiomyopathy in two fetuses
Morten Alstrup, Ida Vogel, Puk Sandager, et al.
JIMD Reports
|
May 12, 2021
Uptake of moss-derived human recombinant GAA in <i>Gaa</i> <sup>-/-</sup> mice
Stefan Hintze, Paulina Dabrowska-Schlepp, Birgit Berg, et al.
JIMD Reports
|
July 1, 2015
The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
Mahdi Amiri, Eva-Maria Kuech, Hadeel Shammas, et al.
Page
of 127