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Recruiting
Hepatic Histopathology in Urea Cycle Disorders
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this …
Baylor Role: Lead Sponsor
Recruiting
Liver Disease in Urea Cycle Disorders
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this …
Baylor Role: Lead Sponsor
Recruiting
L-Citrulline Dose Finding Safety Study in MELAS
The human body is made of many cells and each cell contains many mitochondria. Mitochondria are called the powerhouses of the cell, because they produce the energy needed for a …
Baylor Role: Lead Sponsor
Recruiting
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
The investigators are conducting a natural history study of patients with congenital disorders of glycosylation (CDG). The study will look into the progression of the disease amongst the participants and …
Baylor Role: Collaborator
Recruiting
Investigation of the Genetics of Hematologic Diseases
Participants will be individuals (proband) receiving therapy or expert consultation regarding a non-malignant hematologic disorder. We propose to use genomics, transcriptomics, proteomics and metabolomic analysis coupled with family linkage studies …
Baylor Role: Collaborator