Citrin deficiency, a perplexing global disorder

David Dimmock, Bruno Maranda, Carlo Dionisi‐Vici, +9

Molecular Genetics and Metabolism

Clinical DisordersDisease MechanismGenetic DisorderPathologyCitrin Deficiency +2

Long-Term Correction of Ornithine Transcarbamylase Deficiency by WPRE-Mediated Overexpression Using a Helper-Dependent Adenovirus

Asad Mian, William M. McCormack, Viraj Mane, +7

Molecular Therapy

Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

Abbhirami Rajagopal, Débora Braslavsky, James T. Lu, +10

The Journal of Clinical Endocrinology & Metabolism

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

Sandesh C.S. Nagamani, Oleg A. Shchelochkov, Mary A. Mullins, +8

Molecular Genetics and Metabolism

UrologyHepatologyMedicineLiver PhysiologyHepatic Function Tests +6

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

Matthew S. Comeaux, Jing Wang, Guoli Wang, +7

Molecular Genetics and Metabolism

Neurological DisorderPhysiologyNutritional NeuroscienceBrain InjuryNeurology +7

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

Silke Leimkühler, Philippe Latour, C. Dorche, +6

Human Genetics

BiochemistryNatural SciencesNovel MutationsMolecular BiologyMolybdopterin Synthase +1

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias, +204

European Journal of Human Genetics

New PatientsMendelian DisorderGenetic DisorderMedicineFurther Delineation +7

Urea cycle disorders

Soledad Kleppe, Asad Mian, Brendan Lee

Current Treatment Options in Neurology

UrologyMedicineFemale UrologyUrogynecologyChronic Kidney Disease +2

Ethical and Legal Implications of Genetic Testing in Androgen Insensitivity Syndrome

Jonathan S. Berg, Shannon French, Laurence B. McCullough, +4

The Journal of Pediatrics

InfertilityGenetic TestingLegal ImplicationsBiomedical EthicGenetics +7

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America

Maria Agustina De Rosa, Maria T. Bernardi, Soledad Kleppe, +1

Genes