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JIMD Reports
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March 17, 2021
Diurnal variability of glucose tetrasaccharide (Glc<sub>4</sub>) excretion in patients with glycogen storage disease type III
Sarah P Young, Aleena Khan, Ela Stefanescu, et al.
JIMD Reports
|
March 17, 2021
Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (<i>Mut</i>-ko/ki) of methylmalonic aciduria
Marie Lucienne, Déborah Mathis, Nathan Perkins, et al.
JIMD Reports
|
March 17, 2021
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort
Stefanie Beck-Wödl, Christiane Kehrer, Klaus Harzer, et al.
JIMD Reports
|
January 14, 2022
Functional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational series
William Goodison, Fred Baron, Coralie Seary, et al.
JIMD Reports
|
January 14, 2022
Acute and early developmental outcomes of children with Duarte galactosemia
Judith L Fridovich-Keil, Grace Carlock, Sneh Patel, et al.
JIMD Reports
|
March 14, 2022
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency
Nandaki Keshavan, Michelle Wood, Lucy M Alderson, et al.
JIMD Reports
|
April 18, 2022
Novel mutations in the <i>HADHB</i> gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, et al.
JIMD Reports
|
April 18, 2022
Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel <i>ASS1</i> gene mutations
Shirin Moarefian, Mahdi Zamani, Ali Rahmanifar, et al.
JIMD Reports
|
June 27, 2019
Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients
Jan Smeitink, Saskia Koene, Julien Beyrath, et al.
JIMD Reports
|
June 27, 2019
Glycogen storage disease presenting as Cushing syndrome
Margaret A Stefater, Joseph I Wolfsdorf, Nina S Ma, et al.
Page
of 127
Search research articles
Search
Showing results (301-310 of 1,270) with videos related to
Sort By:
Page
of 127
JIMD Reports
|
March 17, 2021
Diurnal variability of glucose tetrasaccharide (Glc<sub>4</sub>) excretion in patients with glycogen storage disease type III
Sarah P Young, Aleena Khan, Ela Stefanescu, et al.
JIMD Reports
|
March 17, 2021
Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (<i>Mut</i>-ko/ki) of methylmalonic aciduria
Marie Lucienne, Déborah Mathis, Nathan Perkins, et al.
JIMD Reports
|
March 17, 2021
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort
Stefanie Beck-Wödl, Christiane Kehrer, Klaus Harzer, et al.
JIMD Reports
|
January 14, 2022
Functional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational series
William Goodison, Fred Baron, Coralie Seary, et al.
JIMD Reports
|
January 14, 2022
Acute and early developmental outcomes of children with Duarte galactosemia
Judith L Fridovich-Keil, Grace Carlock, Sneh Patel, et al.
JIMD Reports
|
March 14, 2022
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency
Nandaki Keshavan, Michelle Wood, Lucy M Alderson, et al.
JIMD Reports
|
April 18, 2022
Novel mutations in the <i>HADHB</i> gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
Kristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, et al.
JIMD Reports
|
April 18, 2022
Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel <i>ASS1</i> gene mutations
Shirin Moarefian, Mahdi Zamani, Ali Rahmanifar, et al.
JIMD Reports
|
June 27, 2019
Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients
Jan Smeitink, Saskia Koene, Julien Beyrath, et al.
JIMD Reports
|
June 27, 2019
Glycogen storage disease presenting as Cushing syndrome
Margaret A Stefater, Joseph I Wolfsdorf, Nina S Ma, et al.
Page
of 127