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JIMD Reports
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May 14, 2015
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor
Nicholas Brodszki, Maria Svensson, André B P van Kuilenburg, et al.
JIMD Reports
|
May 14, 2015
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil
Marilis T Lara, Juliana Gurgel-Giannetti, Marcos J B Aguiar, et al.
JIMD Reports
|
September 3, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study
Nataliya Yuskiv, Ammar Saad, Beth K Potter, et al.
JIMD Reports
|
June 22, 2015
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series
Barbara Willandt, Janneke G Langendonk, Katharina Biermann, et al.
JIMD Reports
|
June 26, 2015
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation
Jabin Rafiq, Morten Duno, Elsebet Østergaard, et al.
JIMD Reports
|
July 5, 2015
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion
Imre F Schene, Viera Kalinina Ayuso, Monique de Sain-van der Velden, et al.
JIMD Reports
|
May 27, 2015
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations
Hannaneh Foroozani, Maryam Abiri, Shadab Salehpour, et al.
JIMD Reports
|
August 3, 2018
Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients
Daniel A Jaramillo-Calle, Daniel C Aguirre Acevedo
JIMD Reports
|
July 16, 2018
An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study
D Marques-da-Silva, R Francisco, V Dos Reis Ferreira, et al.
JIMD Reports
|
September 9, 2016
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling
Sabine Grønborg, Niklas Darin, Maria J Miranda, et al.
Page
of 125
Search research articles
Search
Showing results (731-740 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
May 14, 2015
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated Donor
Nicholas Brodszki, Maria Svensson, André B P van Kuilenburg, et al.
JIMD Reports
|
May 14, 2015
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil
Marilis T Lara, Juliana Gurgel-Giannetti, Marcos J B Aguiar, et al.
JIMD Reports
|
September 3, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study
Nataliya Yuskiv, Ammar Saad, Beth K Potter, et al.
JIMD Reports
|
June 22, 2015
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series
Barbara Willandt, Janneke G Langendonk, Katharina Biermann, et al.
JIMD Reports
|
June 26, 2015
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation
Jabin Rafiq, Morten Duno, Elsebet Østergaard, et al.
JIMD Reports
|
July 5, 2015
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion
Imre F Schene, Viera Kalinina Ayuso, Monique de Sain-van der Velden, et al.
JIMD Reports
|
May 27, 2015
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations
Hannaneh Foroozani, Maryam Abiri, Shadab Salehpour, et al.
JIMD Reports
|
August 3, 2018
Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients
Daniel A Jaramillo-Calle, Daniel C Aguirre Acevedo
JIMD Reports
|
July 16, 2018
An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study
D Marques-da-Silva, R Francisco, V Dos Reis Ferreira, et al.
JIMD Reports
|
September 9, 2016
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling
Sabine Grønborg, Niklas Darin, Maria J Miranda, et al.
Page
of 125