Search Results - "AlAnzi, Talal"

Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review by Alabbas, Fahad, Elyamany, Ghaleb, Alanzi, Talal, Ali, Tahani Bin, Albatniji, Fatma, Alfaraidi, Huda

“…Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome that is characterized by strong activation of the immune system from…”
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Proteus syndrome caused by novel somatic AKT1 duplication by AlAnzi, Talal, Al-Mashharawi, Eman, Alhashem, Amal

“…Proteus syndrome (PS) is a rare overgrowth disorder that presents with asymmetrical growth of the bone and fat tissues following a mosaic pattern mutation. The…”
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish by Van De Weghe, Julie C., Rusterholz, Tamara D.S., Latour, Brooke, Grout, Megan E., Aldinger, Kimberly A., Shaheen, Ranad, Dempsey, Jennifer C., Maddirevula, Sateesh, Cheng, Yong-Han H., Phelps, Ian G., Gesemann, Matthias, Goel, Himanshu, Birk, Ohad S., Alanzi, Talal, Rawashdeh, Rifaat, Khan, Arif O., Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephan C.F., Dobyns, William B., Alkuraya, Fowzan S., Roepman, Ronald, Bachmann-Gagescu, Ruxandra, Doherty, Dan

“…Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment…”
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A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis by Alanzi, Talal, Alhashem, Amal, Dagriri, Khalid, Alzahrani, Fatema, Alkuraya, Fowzan S

“…Congenital heart disease (CHD) is the most common type of birth defects with family- and population-based studies supporting a strong hereditary component…”
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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia by Yüksel, Zafer, Vogel, Florian, Alhashem, Amal M., Alanzi, Talal S.A., Tabarki, Brahim, Kampe, Kapil, Kandaswamy, Krishna K., Werber, Martin, Bertoli‐Avella, Aida M., Beetz, Christian, Rolfs, Arndt, Bauer, Peter

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An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia by Shamseldin, Hanan E., Al Mogarri, Ibrahim, Alqwaiee, Mansour M., Alharbi, Adel S., Baqais, Khaled, AlSaadi, Muslim, AlAnzi, Talal, Alhashem, Amal, Saghier, Afaf, Ameen, Waleed, Ibrahim, Niema, Yang, Jason, Abdulwahab, Firdous, Hashem, Mais, Chivukula, Raghu R., Alkuraya, Fowzan S.

“…Unlike disorders of primary cilium, primary ciliary dyskinesia (PCD) has a much narrower clinical spectrum consistent with the limited tissue distribution of…”
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Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case by AlAnzi, Talal, Mohamed, Sarar, AlHashem, Amal, AlRukban, Hadeel

“…Alpha-mannosidosis is a rare lysosomal storage disorder with progressive impairments in motor functions, skeletal deformities, and immunodeficiency. Enzyme…”
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The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening by AlAnzi, Talal, Al Harbi, Fahad J, AlFaifii, Joharah, Mohamed, Sarar

“…Classic homocystinuria (CH) is an inborn error of metabolism caused by cystathionine beta-synthase enzyme deficiency. Affected patients present with…”
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Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis by Alabdulrazzaq, Fatima, Alanzi, Talal, Al‐Balool, Haya H., Gardham, Alice, Wakeling, Emma, Leitch, Harry G., AlSayed, Moeenaldeen, Abdulrahim, Maha, Aladwani, Abdulaziz, Romito, Antonio, Kampe, Kapil, Ferdinandusse, Sacha, Aboelanine, Ashraf H., Abdullah, Amira, Alwadani, Amal, Bastaki, Laila, Vaz, Frédéric M., Bertoli‐Avella, Aida M., Marafi, Dana

“…Background Very long‐chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin,…”
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A novel GCM2 mutation identified in an infant with familial isolated hypoparathyroidism by Rubaya, Khloud, AlMijmaj, Faten, AlAnzi, Talal, AlJasser, Abdullah

“…Background: Isolated hypoparathyroidism comprises a set of heterogeneous inherited diseases associated with abnormal calcium metabolism exclusively due to…”
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Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience by Mohamed, Ahmed Sarar, AlAnzi, Talal, Alhashem, Amal, Alrukban, Hadeel, Al Harbi, Fahad, Mohamed, Sarar

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Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions by Westenberger, Ana, Ruiz‐Herrera, Adriana, Bozdoğan, Sevcan, Bisgin, Atil, Almuqbil, Mohammed, Alhashem, Amal, Alanzi, Talal, Romito, Antonio, Rolfs, Arndt, Dias, Patricia, Gouveia Silva, Raquel, Bertoli‐Avella, Aida M., Bauer, Peter, Beetz, Christian

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A novel variant of RBCK1 gene causes mild polyglucosan myopathy by AlAnzi, Talal, Al Harbi, Fahad, AlGhamdi, AbdulAziz, Mohamed, Sarar

“…Homozygous or compound heterozygous pathogenic variants of the gene can result in a systemic disorder characterized by the accumulation of complex carbohydrate…”
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Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective by Alfadhel, Majid, Al Sannaa, Nouriya, Sunbul, Rawda, Al-Khawaja, Huda, Askandarani, Sumayah, Alanzi, Talal, Elawad, Mamoun, Fourtounas, Konstantinos

“…Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations. Its global incidence ranges from 1:40,000 to…”
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Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia by Alabbas, Fahad, Alanzi, Talal, Alrasheed, Abdulrahman, Essa, Mohammed, Elyamany, Ghaleb, Asiri, Abdulrahman, Almutairi, Sajdi, Al-Mayouf, Sulaiman, Alenazi, Abdullatif, Alsafadi, Danyah, Ballourah, Walid, Albalawi, Naif, Hanafy, Ehab, Al-Hebshi, Abdulqader, Alrashidi, Seham, Albatniji, Fatma, Alfaraidi, Huda, Ali, Tahani Bin, Al Qwaiee, Mansour, AlHilali, Maryam, Aldeeb, Hayam, Alhaidey, Ali, Aljasem, Hassan, Althubaiti, Sami, Alsultan, Abdulrahman

“…Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due…”
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Development and validation of a score for emergency intervention in patients with acute renal colic secondary to ureteric stones by Al-Terki, Abdullatif, El-Nahas, Ahmed R., Abdelhamid, Usama, Al-Ruwaished, Mohamed A., Alanzi, Talal, Al-Shaiji, Tariq F.

“…Objectives : To develop and validate a scoring system to assess the need for emergency intervention (EI) in patients with uncomplicated acute renal colic (ARC)…”
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Grafted tubularised incised-plate urethroplasty: An objective assessment of outcome with lessons learnt from surgical experience with 263 cases by Gupta, Vipul, Yadav, Sunil Kumar, Alanzi, Talal, Amer, Islam, Salah, Mohmmad, Ahmed, Mamdouh

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Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case by AlAnzi, Talal, Mohamed, Sarar, AlHashem, Amal, AlRukban, Hadeel

“…Alpha-mannosidosis is a rare lysosomal storage disorder with progressive impairments in motor functions, skeletal deformities, and immunodeficiency. Enzyme…”
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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia by Yüksel, Zafer, Vogel, Florian, Alhashem, Amal M, Alanzi, Talal S A, Tabarki, Brahim, Kampe, Kapil, Kandaswamy, Krishna K, Werber, Martin, Bertoli-Avella, Aida M, Beetz, Christian, Rolfs, Arndt, Bauer, Peter

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