Inherited metabolic disorders and dyslipidaemia von Sulaiman, Raashda A

Volltext

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation von Monies, Dorota, Maddirevula, Sateesh, Kurdi, Wesam, Alanazy, Mohammed H., Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A., Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Shaheen, Ranad, Arold, Stefan T., Alkuraya, Fowzan S.

Volltext

Inherited Metabolic Disorders in Adults: A view from Saudi Arabia von Sulaiman, Raashda A., Al-Owain, Mohammed

Volltext

The neuroimaging findings of monocarboxylate transporter 1 deficiency von Nicolas-Jilwan, Manal, Medlej, Rita, Sulaiman, Raashda A, AlSayed, Moeenaldeen

Volltext

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects von AlAbdi, Lama, Desbois, Muriel, Rusnac, Domniţa-Valeria, Sulaiman, Raashda A, Rosenfeld, Jill A, Lalani, Seema, Murdock, David R, Burrage, Lindsay C, Billie Au, Ping Yee, Towner, Shelley, Wilson, William G, Wong, Lawrence, Brunet, Theresa, Strobl-Wildemann, Gertrud, Burton, Jennifer E, Hoganson, George, McWalter, Kirsty, Begtrup, Amber, Zarate, Yuri A, Christensen, Elyse L, Opperman, Karla J, Giles, Andrew C, Helaby, Rana, Kania, Artur, Zheng, Ning, Grill, Brock, Alkuraya, Fowzan S

Volltext

Emergency management of critically ill adult patients with inherited metabolic disorders von Sulaiman, Raashda A., Alali, Abdulaziz, Hosaini, Sulaiman, Hussein, Maged, Pasha, Farooq, Albogami, Muneerah, Sheikh, Aamir N, AlSayed, Moeen, Al-Owain, Mohammed

Volltext

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes von Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Al-Kindy, Adila, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.

Volltext

Biotin treatment causing erroneous immunoassay results: A word of caution for clinicians von Sulaiman, Raashda Ainuddin

Volltext

MYH1 is a candidate gene for recurrent rhabdomyolysis in humans von Alsaif, Hessa S., Alshehri, Ali, Sulaiman, Raashda A., Al‐Hindi, Hindi, Guzmán‐Vega, Francisco J., Arold, Stefan T., Alkuraya, Fowzan S.

Volltext

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience von Altassan, Ruqaiah, Sulaiman, Raashda A., Alfalah, Abdullah, Alwagiat, Waad, Megdad, Eman, Alqasabi, Dana, Handoom, Bedour, Almesned, Munirah, Al-Amri, Hassan, Alhassnan, Zuhair, Alsayed, Moeen-aldeen, Alzaidan, Hamad, Rahbeeni, Zuhair, Derar, Nada, Al-Owain, Mohammed, Albanyan, Esam

Volltext

Investigation and Causes of Spontaneous (Non-Diabetic) Hypoglycaemia in Adults: Pitfalls to Avoid von Elghobashy, Maiar, Gama, Rousseau, Sulaiman, Raashda Ainuddin

Volltext

Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene von Ramzan, Khushnooda, Imtiaz, Faiqa, Al-Ashgar, Hamad I, AlSayed, Moeenaldeen, Sulaiman, Raashda A

Volltext

Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia von Bakshi, Nasir A., Al‐Anzi, Talal, Mohamed, Said Y., Rahbeeni, Zuhair, AlSayed, Moeen, Al‐Owain, Mohammed, Sulaiman, Raashda A.

Volltext

Effect of order of draw of blood samples during phlebotomy on routine biochemistry results von Sulaiman, Raashda A, Cornes, Michael P, Whitehead, Simon J, Othonos, Nadia, Ford, Clare, Gama, Rousseau

Volltext

Depression in adult patients with biotin responsive basal ganglia disease von Bubshait, Dalal K., Rashid, Asif, Al-Owain, Mohammed A., Sulaiman, Raashda A.

Volltext

Pasireotide and octreotide in the treatment of severe late dumping syndrome von Mohammadi, Alireza, Sulaiman, Raashda A., Grossman, Ashley B.

Volltext

Correction: Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation von Monies, Dorota, Maddirevula, Sateesh, Kurdi, Wesam, Alanazy, Mohammed H, Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A, Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Shaheen, Ranad, Arold, Stefan T, Alkuraya, Fowzan S

Volltext

Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis von Aldosary, Mazhor, Al-Otaibi, Maha, Al-Fadhli, Fatima, Kaya, Namik, Sulaiman, Raashda, Al-Owain, Mohammed

Volltext

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy von Sulaiman, Raashda Ainuddin, Shaheen, Marwan Yassin, Al-Zaidan, Hamad, Al-Hassnan, Zuhair, Al-Sayed, Moeenaldeen, Rahbeeni, Zuhair, Bakshi, Nasir Ahmed, Kaya, Namik, Aldosary, Mazhor, Al-Owain, Mohammed

Volltext

Postprandial hypoglycaemia in adults: pathogenesis, diagnosis and management von Sulaiman, Raashda A.

Volltext