Results 61 to 70 of about 4,477 (107)

Development, distribution and properties of purine phosphoribosyltransferases in mammals [PDF]

, 1973
The object of the work described in this thesis has been to determine the tissue distribution, development, and properties of the purine phosphoribosyltransferases (PRTases), especially in man but also in some other animals.A major part of the work was ...
Adams, Andrew
core   +1 more source

Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases [PDF]

Background: Inherited metabolic disorders (IEMs) can be represented in children and adolescents by psychiatric disorders. The early diagnosis of IEMs is crucial for clinical outcome and treatment.
Baglioni, Valentina, Beatrice, Annachiara, Bozza, Fabiola, Cameli, Noemi, Colacino Cinnante, Elisa Maria, Lentini, Giuliana, Nardecchia, Francesca, Pisani, Francesco, Terrinoni, Arianna   +8 more
core   +1 more source

Modeling neurodegenerative diseases with human pluripotent stem cells [PDF]

, 2015
The discovery of human pluripotent stem cells has enabled the development of assays to model human disease in vitro. The research described in this thesis has focused on modeling Amyotrophic Lateral Sclerosis and Lesch Nyhan Syndrome using pluripotent ...
Boer, A.S. de
core   +1 more source

SOMATIC CELL HYBRIDS BETWEEN MOUSE PERITONEAL MACROPHAGES AND SV40-TRANSFORMED HUMAN CELLS : I. Positive Control of the Transformed Phenotype by the Human Chromosome 7 Carrying the SV40 Genome [PDF]

, 1974
Fusion of mouse peritoneal macrophages with SV40-transformed human cells, deficient in hypoxanthine guanine phosphoribosyltransferase, resulted in the formation of transformed somatic cell hybrids which contained, without exception, the human chromosome ...
Croce, Carlo M., Koprowski, Hilary
core   +1 more source

Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome. [PDF]

J Endourol Case Rep, 2020
Meagher MF, Bechis SK.
europepmc   +1 more source

Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report. [PDF]

Medicine (Baltimore), 2020
Lee J, Jung SM, Jeon S.
europepmc   +1 more source

Lesch-Nyhan Syndrome and Oral Self-injury: A Systematic Review of Case Reports. [PDF]

Int J Clin Pediatr Dent
Negi S, Tripathy S, Merchant Y, Mathur A, Mehta V.   +4 more
europepmc   +1 more source

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series. [PDF]

Diagnostics (Basel)
Fang HH, Lee CL, Chen HJ, Chuang CK, Chiu HC, Chang YH, Tu YR, Lo YT, Lin HY, Lin SP.   +9 more
europepmc   +1 more source

Recurrent Fevers, Dysautonomia, and Dehydration in a Patient With Lesch-Nyhan Syndrome. [PDF]

Cureus
Pan S, Truss A, Hussain S.
europepmc   +1 more source

Dystonia in Handcuffs: A Picture Typical of Lesch-Nyhan Syndrome. [PDF]

Mov Disord Clin Pract, 2019
Menozzi E, Latorre A, Balint B, Bhatia KP.   +3 more
europepmc   +1 more source