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JIMD Reports
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May 27, 2015
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency
Matthias Zielonka, Nawal Makhseed, Nenad Blau, et al.
JIMD Reports
|
August 20, 2016
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
Ronen Spiegel, Devorah Soiferman, Avraham Shaag, et al.
JIMD Reports
|
August 13, 2016
The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency
Karolina M Stepien, Anthony S Wierzbicki, Bwee T Poll-The, et al.
JIMD Reports
|
August 13, 2016
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients
M M Welsink-Karssies, J A W Polderman, E J Nieveen van Dijkum, et al.
JIMD Reports
|
January 14, 2022
Two siblings with galactose mutarotase deficiency: Clinical differences
Havva Yazici, Ebru Canda, Yasemin Atik Altınok, et al.
JIMD Reports
|
January 14, 2022
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measures
Annieke Venema, Fabian Peeks, Marlies de Bruijn-van der Veen, et al.
JIMD Reports
|
January 14, 2022
Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria
Birgitta Olsson, Lakshminarayan Ranganath, Jean-Baptiste Arnoux, et al.
JIMD Reports
|
September 14, 2022
Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis
Alfredo Uribe-Ardila, Johana Ramirez-Borda, Adis Ayala
JIMD Reports
|
September 14, 2022
Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy
Sema Kalkan Uçar, Havva Yazıcı, Ebru Canda, et al.
JIMD Reports
|
September 11, 2015
Causes of Death in Adults with Mitochondrial Disease
Marlieke Barends, Lotte Verschuren, Eva Morava, et al.
Page
of 125
Search research articles
Search
Showing results (931-940 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
May 27, 2015
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency
Matthias Zielonka, Nawal Makhseed, Nenad Blau, et al.
JIMD Reports
|
August 20, 2016
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
Ronen Spiegel, Devorah Soiferman, Avraham Shaag, et al.
JIMD Reports
|
August 13, 2016
The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency
Karolina M Stepien, Anthony S Wierzbicki, Bwee T Poll-The, et al.
JIMD Reports
|
August 13, 2016
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients
M M Welsink-Karssies, J A W Polderman, E J Nieveen van Dijkum, et al.
JIMD Reports
|
January 14, 2022
Two siblings with galactose mutarotase deficiency: Clinical differences
Havva Yazici, Ebru Canda, Yasemin Atik Altınok, et al.
JIMD Reports
|
January 14, 2022
A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measures
Annieke Venema, Fabian Peeks, Marlies de Bruijn-van der Veen, et al.
JIMD Reports
|
January 14, 2022
Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria
Birgitta Olsson, Lakshminarayan Ranganath, Jean-Baptiste Arnoux, et al.
JIMD Reports
|
September 14, 2022
Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis
Alfredo Uribe-Ardila, Johana Ramirez-Borda, Adis Ayala
JIMD Reports
|
September 14, 2022
Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy
Sema Kalkan Uçar, Havva Yazıcı, Ebru Canda, et al.
JIMD Reports
|
September 11, 2015
Causes of Death in Adults with Mitochondrial Disease
Marlieke Barends, Lotte Verschuren, Eva Morava, et al.
Page
of 125