Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

Autor: Carducci C; Department of Experimental Medicine University of Rome 'La Sapienza' Rome Italy., Amayreh W; Queen Rania Children Hospital, King Hussein Medical Centre Amman Jordan.; Princess Haya Biotechnology Centre Jordan University of Science and Technology Irbid Jordan., Ababneh H; Princess Haya Biotechnology Centre Jordan University of Science and Technology Irbid Jordan.; Department of Biotechnology and Genetic Engineering Jordan University of Science and Technology Irbid Jordan., Mahasneh A; Princess Haya Biotechnology Centre Jordan University of Science and Technology Irbid Jordan.; Department of Biotechnology and Genetic Engineering Jordan University of Science and Technology Irbid Jordan., Al Rababah B; Princess Haya Biotechnology Centre Jordan University of Science and Technology Irbid Jordan., Al Qaqa K; Queen Rania Children Hospital, King Hussein Medical Centre Amman Jordan., Al Aqeel M; Queen Rania Children Hospital, King Hussein Medical Centre Amman Jordan., Artiola C; Department of Experimental Medicine University of Rome 'La Sapienza' Rome Italy., Tolve M; Department of Experimental Medicine University of Rome 'La Sapienza' Rome Italy., D'Amici S; Department of Experimental Medicine University of Rome 'La Sapienza' Rome Italy., Shen N; Department of Rehabilitation Medicine Xin Hua Hospital affiliated to Shanghai Jiao Tong University School of Medicine Shanghai China., Yu Y; Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University Shanghai China., Hillert A; Dietmar Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany., Himmelreich N; Dietmar Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany., Okun JG; Dietmar Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany., Hoffmann GF; Dietmar Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany., Blau N; Dietmar Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany.; Division of Metabolism University Children's Hospital Zürich Switzerland.

Publikováno v: JIMD reports [JIMD Rep] 2020 May 19; Vol. 55 (1), pp. 59-67. Date of Electronic Publication: 2020 May 19 (Print Publication: 2020).

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023).

Autor: Therrell, Bradford L., Padilla, Carmencita D., Borrajo, Gustavo J. C., Khneisser, Issam, Schielen, Peter C. J. I., Knight-Madden, Jennifer, Malherbe, Helen L., Kase, Marika

Publikováno v: International Journal of Neonatal Screening (IJNS); Jun2024, Vol. 10 Issue 2, p38, 184p

MATERNAL OUTCOMES OF EXPECTANT MANAGEMENT IN COMPARISON WITH INDUCTION OF LABOUR WITHIN TWENTY FOUR HOURS OF PREMATURE RUPTURE OF MEMBRANES (PROM).

Autor: Ashraf, Saima¹ saimashahzad35177@gmail.com, Sultana, Hajira², Qadir, Saima Yasmin¹, Khalid, Muhammad³

Publikováno v: Professional Medical Journal. 2020, Vol. 27 Issue 8, p1565-1569. 5p.

Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review.

Autor: Sur, Lucia Maria, Mager, Monica Alina, Bolunduţ, Alexandru-Cristian, Trifa, Adrian-Pavel, Anton-Păduraru, Dana Teodora

Publikováno v: Children; Apr2023, Vol. 10 Issue 4, p727, 9p

Prevalence of the pattern of Pre-labor premature rupture of membranes among pregnant women at Al-Sadaqa Teaching Hospital, Aden, Yemen.

Autor: Al-Kaaky, Nahla Saleh

Publikováno v: Journal of Medical & Pharmaceutical Sciences; Sep2022, Vol. 6 Issue 5, p52-65, 14p