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JIMD Reports
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September 14, 2022
A cross-sectional natural history study of aspartylglucosaminuria
Kimberly Goodspeed, Daniel Horton, Andrea Lowden, et al.
JIMD Reports
|
September 14, 2022
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder
Milena M Andzelm, Shanti Balasubramaniam, Edward Yang, et al.
JIMD Reports
|
November 6, 2023
Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American origin
Shelby L Mills, Paige Roberts, Myla Ashfaq, et al.
JIMD Reports
|
November 6, 2023
Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease
Paulina Dabrowska-Schlepp, Andreas Busch, Jin-Song Shen, et al.
JIMD Reports
|
July 8, 2024
Screening and surveillance of hepatocellular carcinoma by serum des-gamma-carboxy prothrombin in patients with glycogen storage disease type Ia
A B Schreuder, R J Overduin, N C Peltenburg, et al.
JIMD Reports
|
July 5, 2023
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the <i>PSAP</i> gene: Case report from India
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
JIMD Reports
|
July 5, 2023
CORRIGENDUM
JIMD Reports
|
July 5, 2023
Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects
Abigail Whitehouse, Preeya Rehsi, Louise Hartley, et al.
JIMD Reports
|
September 9, 2020
Improved electroretinographic responses following dietary intervention in a patient with Refsum disease
Matthew D Benson, Ian M MacDonald, Melissa Sheehan, et al.
JIMD Reports
|
September 9, 2020
Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder
Ashley Wilson, Vivian Cruz, Jonathan B Kronick
Page
of 125
Search research articles
Search
Showing results (461-470 of 1,250) with videos related to
Sort By:
Page
of 125
JIMD Reports
|
September 14, 2022
A cross-sectional natural history study of aspartylglucosaminuria
Kimberly Goodspeed, Daniel Horton, Andrea Lowden, et al.
JIMD Reports
|
September 14, 2022
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder
Milena M Andzelm, Shanti Balasubramaniam, Edward Yang, et al.
JIMD Reports
|
November 6, 2023
Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American origin
Shelby L Mills, Paige Roberts, Myla Ashfaq, et al.
JIMD Reports
|
November 6, 2023
Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease
Paulina Dabrowska-Schlepp, Andreas Busch, Jin-Song Shen, et al.
JIMD Reports
|
July 8, 2024
Screening and surveillance of hepatocellular carcinoma by serum des-gamma-carboxy prothrombin in patients with glycogen storage disease type Ia
A B Schreuder, R J Overduin, N C Peltenburg, et al.
JIMD Reports
|
July 5, 2023
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the <i>PSAP</i> gene: Case report from India
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
JIMD Reports
|
July 5, 2023
CORRIGENDUM
JIMD Reports
|
July 5, 2023
Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects
Abigail Whitehouse, Preeya Rehsi, Louise Hartley, et al.
JIMD Reports
|
September 9, 2020
Improved electroretinographic responses following dietary intervention in a patient with Refsum disease
Matthew D Benson, Ian M MacDonald, Melissa Sheehan, et al.
JIMD Reports
|
September 9, 2020
Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder
Ashley Wilson, Vivian Cruz, Jonathan B Kronick
Page
of 125