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JIMD Reports
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May 13, 2020
NGLY1 deficiency-A rare congenital disorder of deglycosylation
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, et al.
JIMD Reports
|
May 13, 2020
Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome)
Adela Della Marina, Baerbel Leiendecker, Sebastian Roesch, et al.
JIMD Reports
|
May 13, 2020
Tyrosine hydroxylase deficiency-Clinical insights and a novel deletion in <i>TH</i> gene in an Indian patient
Sunita Bijarnia-Mahay, Vivek Jain, Beat Thöny
JIMD Reports
|
May 13, 2020
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1
Katelynn M Wilton, Joel A Morales-Rosado, Duygu Selcen, et al.
JIMD Reports
|
May 13, 2020
The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma
Shirley Judd, Milad Khedr, Anna M Milan, et al.
JIMD Reports
|
May 13, 2020
Food insecurity in females with phenylketonuria
Kathryn E Coakley, Suzanne Porter-Bolton, Mary L Salvatore, et al.
JIMD Reports
|
September 6, 2021
Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series
Arthavan Selvanathan, Jane Kinsella, Francesca Moore, et al.
JIMD Reports
|
September 6, 2021
Vitiligo, alkaptonuria, and nitisinone-A report of three families and review of the literature
Lakshminarayan Ranganath, Milad Khedr, Leanne A Evans, et al.
JIMD Reports
|
September 6, 2021
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
Nicola Vitturi, Livia Lenzini, Concetta Luisi, et al.
JIMD Reports
|
September 6, 2021
Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII)
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, et al.
Page
of 127
Search research articles
Search
Showing results (321-330 of 1,270) with videos related to
Sort By:
Page
of 127
JIMD Reports
|
May 13, 2020
NGLY1 deficiency-A rare congenital disorder of deglycosylation
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, et al.
JIMD Reports
|
May 13, 2020
Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome)
Adela Della Marina, Baerbel Leiendecker, Sebastian Roesch, et al.
JIMD Reports
|
May 13, 2020
Tyrosine hydroxylase deficiency-Clinical insights and a novel deletion in <i>TH</i> gene in an Indian patient
Sunita Bijarnia-Mahay, Vivek Jain, Beat Thöny
JIMD Reports
|
May 13, 2020
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1
Katelynn M Wilton, Joel A Morales-Rosado, Duygu Selcen, et al.
JIMD Reports
|
May 13, 2020
The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma
Shirley Judd, Milad Khedr, Anna M Milan, et al.
JIMD Reports
|
May 13, 2020
Food insecurity in females with phenylketonuria
Kathryn E Coakley, Suzanne Porter-Bolton, Mary L Salvatore, et al.
JIMD Reports
|
September 6, 2021
Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series
Arthavan Selvanathan, Jane Kinsella, Francesca Moore, et al.
JIMD Reports
|
September 6, 2021
Vitiligo, alkaptonuria, and nitisinone-A report of three families and review of the literature
Lakshminarayan Ranganath, Milad Khedr, Leanne A Evans, et al.
JIMD Reports
|
September 6, 2021
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
Nicola Vitturi, Livia Lenzini, Concetta Luisi, et al.
JIMD Reports
|
September 6, 2021
Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII)
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, et al.
Page
of 127