S. Kleppe

发表

Consequences of Urea Cycle Enzyme Deficiencies and Potential Links to Arginine and Nitric Oxide Metabolism 1 , 2

N. Brunetti‐Pierri, J. Marini, F. Scaglia, 2004 .

Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.

N. Brunetti‐Pierri, J. Marini, F. Scaglia, 2004, The Journal of nutrition.

Citrin deficiency, a perplexing global disorder.

A. Hamosh, W. O'Brien, D. Dimmock, 2009, Molecular genetics and metabolism.

Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus.

A. Beaudet, J. Rodgers, W. O'Brien, 2004, Molecular therapy : the journal of the American Society of Gene Therapy.

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

J. Marini, Brendan H. Lee, B. Lanpher, 2012, Molecular genetics and metabolism.

Urea cycle disorders

Brendan H. Lee, Asad I Mian, S. Kleppe, 2003, Current treatment options in neurology.

Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy

J. Rosenfeld, K. Gripp, W. Bi, 2022, American journal of medical genetics. Part A.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

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

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.

R. Gibbs, James T. Lu, Brendan H. Lee, 2014, The Journal of clinical endocrinology and metabolism.

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

W. Craigen, L. Wong, Jing Wang, 2013, Molecular genetics and metabolism.

Multiple ischaemic strokes and encephalopathy in a patient with CADASIL and COVID-19: A complex association

Soledad Kleppe, M. Zurrú, M. Zurrú, 2022, Neurology Perspectives.

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

F. Scaglia, J. Reiss, P. Latour, 2005, Human Genetics.

Ethical and legal implications of genetic testing in androgen insensitivity syndrome.

J. Berg, V. Sutton, L. Mccullough, 2007, The Journal of pediatrics.