Search research articles
Contact Us
Filters
Showing results (871-880 of 1,250) with videos related to
Page
of 125
Sort By:
JIMD Reports
|
January 21, 2025
A Single-Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates
Omar Jarrah, Mahmood Nouri, Aisha Al Shamsi
JIMD Reports
|
November 15, 2024
Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver
Mihaela Mihaljević, Danijela Petković Ramadža, Tamara Žigman, et al.
JIMD Reports
|
November 8, 2024
Olfactory and gustatory perception in Brazilian PKU patients: A cross-sectional study
Tássia Tonon, Chenia Martinez, Tatiele Nalin, et al.
JIMD Reports
|
November 8, 2024
In vivo glycerol metabolism in patients with glycerol kinase deficiency
Ankit Shah, Huiting Xu, Hyok Joon Kwon, et al.
JIMD Reports
|
July 8, 2024
The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the <i>TPP1</i> gene and genotype-phenotype correlation in Ukraine
Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, et al.
JIMD Reports
|
July 8, 2024
Transient response to high-dose niacin therapy in a patient with NAXE deficiency
Fatema Al-Amrani, Khalid Al-Thihli, Eiman Al-Ajmi, et al.
JIMD Reports
|
July 8, 2024
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis
Oliver Heath, Brooke Allender, Joel Smith, et al.
JIMD Reports
|
September 13, 2023
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
Trine Tangeraas, Erle Kristensen, Lars Mørkrid, et al.
JIMD Reports
|
September 13, 2023
Development of tools to facilitate the diagnosis of hereditary fructose intolerance
Bianca Panis, Lise E F Janssen, Dirk J Lefeber, et al.
JIMD Reports
|
September 13, 2023
Aromatic l-amino acid decarboxylase deficiency in Taiwan
Wuh-Liang Hwu, Rai-Hseng Hsu, Mei-Hsin Li, et al.
Page
of 125
Search research articles
Search
Showing results (871-880 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
January 21, 2025
A Single-Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates
Omar Jarrah, Mahmood Nouri, Aisha Al Shamsi
JIMD Reports
|
November 15, 2024
Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver
Mihaela Mihaljević, Danijela Petković Ramadža, Tamara Žigman, et al.
JIMD Reports
|
November 8, 2024
Olfactory and gustatory perception in Brazilian PKU patients: A cross-sectional study
Tássia Tonon, Chenia Martinez, Tatiele Nalin, et al.
JIMD Reports
|
November 8, 2024
In vivo glycerol metabolism in patients with glycerol kinase deficiency
Ankit Shah, Huiting Xu, Hyok Joon Kwon, et al.
JIMD Reports
|
July 8, 2024
The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the <i>TPP1</i> gene and genotype-phenotype correlation in Ukraine
Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, et al.
JIMD Reports
|
July 8, 2024
Transient response to high-dose niacin therapy in a patient with NAXE deficiency
Fatema Al-Amrani, Khalid Al-Thihli, Eiman Al-Ajmi, et al.
JIMD Reports
|
July 8, 2024
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis
Oliver Heath, Brooke Allender, Joel Smith, et al.
JIMD Reports
|
September 13, 2023
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
Trine Tangeraas, Erle Kristensen, Lars Mørkrid, et al.
JIMD Reports
|
September 13, 2023
Development of tools to facilitate the diagnosis of hereditary fructose intolerance
Bianca Panis, Lise E F Janssen, Dirk J Lefeber, et al.
JIMD Reports
|
September 13, 2023
Aromatic l-amino acid decarboxylase deficiency in Taiwan
Wuh-Liang Hwu, Rai-Hseng Hsu, Mei-Hsin Li, et al.
Page
of 125