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Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.
Published in:
Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 3, p. 302, doi. 10.4274/jcrpe.galenos.2021.2021.0173
By:
- Al Shidhani, Azza;
- Al Hinai, Abdulhamid;
- Al Thihli, Khalid;
- Al Mandhari, Hilal;
- Al Yaarubi, Saif;
- Ullah, Irfan;
- Al-Hashmi, Nadia;
- Al Murshedi, Fathiya
Publication type:
Article
Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome: Report of 7 Children.
Published in:
Journal of Child Neurology, 2014, v. 29, n. 11, p. 1436, doi. 10.1177/0883073813479173
By:
- Koul, Roshan;
- Al-Yarubi, Saif;
- Al-Kindy, Hussein;
- Al-Futaisi, Amna;
- Chacko, Poovathoor Alexander;
- Al-Thihli, Khalid;
- Sankhla, Dilip
Publication type:
Article
Clinical and molecular characteristics of imerslund‐gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene.
Published in:
International Journal of Laboratory Hematology, 2021, v. 43, n. 5, p. 1009, doi. 10.1111/ijlh.13473
By:
- Elshinawy, Mohamed;
- Gao, Harry H.;
- Al‐Nabhani, Dana M.;
- Al‐Thihli, Khalid A.
Publication type:
Article
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Published in:
2019
By:
- Johnstone, Devon L;
- Al-Shekaili, Hilal H;
- Tarailo-Graovac, Maja;
- Wolf, Nicole I;
- Ivy, Autumn S;
- Demarest, Scott;
- Roussel, Yann;
- Ciapaite, Jolita;
- Roermund, Carlo W T van;
- Kernohan, Kristin D;
- Kosuta, Ceres;
- Ban, Kevin;
- Ito, Yoko;
- McBride, Skye;
- Al-Thihli, Khalid;
- Abdelrahim, Rana A;
- Koul, Roshan;
- Futaisi, Amna Al;
- Haaxma, Charlotte A;
- Olson, Heather
Publication type:
journal article
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Published in:
2016
By:
- Byrne, Susan;
- Jansen, Lara;
- U-King-Im, Jean-Marie;
- Siddiqui, Ata;
- Lidov, Hart G. W.;
- Bodi, Istvan;
- Smith, Luke;
- Mein, Rachael;
- Cullup, Thomas;
- Dionisi-Vici, Carlo;
- Al-Gazali, Lihadh;
- Al-Owain, Mohammed;
- Bruwer, Zandre;
- Al Thihli, Khalid;
- El-Garhy, Rana;
- Flanigan, Kevin M.;
- Manickam, Kandamurugu;
- Zmuda, Erik;
- Banks, Wesley;
- Gershoni-Baruch, Ruth
Publication type:
journal article
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-22036-z
By:
- Al-Kasbi, Ghalia;
- Al-Murshedi, Fathiya;
- Al-Kindi, Adila;
- Al-Hashimi, Nadia;
- Al-Thihli, Khalid;
- Al-Saegh, Abeer;
- Al-Futaisi, Amna;
- Al-Mamari, Watfa;
- Al-Asmi, Abdullah;
- Bruwer, Zandre;
- Al-Kharusi, Khalsa;
- Al-Rashdi, Samiya;
- Zadjali, Fahad;
- Al-Yahyaee, Said;
- Al-Maawali, Almundher
Publication type:
Article
Further phenotypic delineation of Alazami syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2485, doi. 10.1002/ajmg.a.62778
By:
- Al‐Hinai, Abdulhamid;
- Al‐Hashmi, Samiya;
- Ganesh, Anuradha;
- Al‐Hashmi, Nadia;
- Al‐Saegh, Abeer;
- Al‐Mamari, Watfa;
- Al‐Murshedi, Fathiya;
- Al‐Thihli, Khalid;
- Al‐Kindi, Adila;
- Al‐Maawali, Almundher
Publication type:
Article
Phenotypic spectrum of ALPK3‐related cardiomyopathy.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1235, doi. 10.1002/ajmg.a.61176
By:
- Al Senaidi, Khalfan;
- Joshi, Niranjan;
- Al‐Nabhani, Maryam;
- Al‐Kasbi, Ghalia;
- Al Farqani, Abdullah;
- Al‐Thihli, Khalid;
- Al‐Maawali, Almundher
Publication type:
Article
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
Published in:
Journal of Perinatal Medicine, 2018, v. 46, n. 9, p. 968, doi. 10.1515/jpm-2017-0124
By:
- Bruwer, Zandrè;
- Al Riyami, Nihal;
- Al Dughaishi, Tamima;
- Al Murshedi, Fathiya;
- Al Sayegh, Abeer;
- Al Kindy, Adila;
- Meftah, Douja;
- Al Kharusi, Khalsa;
- Al Foori, Amel;
- Al Yarubi, Naeema;
- Scott, Patrick;
- Al-Thihli, Khalid
Publication type:
Article
A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria.
Published in:
Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1119, doi. 10.1007/s11011-017-9998-z
By:
- Rabah, Fatma;
- Al-Thihli, Khalid;
- El-Naggari, Mohamed;
- Elnour, Ibtisam
Publication type:
Article
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.
Published in:
Journal of Autism & Developmental Disorders, 2015, v. 45, n. 8, p. 2323, doi. 10.1007/s10803-015-2394-9
By:
- Al-Mamari, Watfa;
- Al-Saegh, Abeer;
- Al-Kindy, Adila;
- Bruwer, Zandre;
- Al-Murshedi, Fathiya;
- Al-Thihli, Khalid
Publication type:
Article
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02946-5
By:
- Al Busaidi, Marwa;
- Mohamed, Feda E.;
- Al-Ajmi, Eiman;
- Al Hashmi, Nadia;
- Al-Thihli, Khalid;
- Al Futaisi, Amna;
- Al Mamari, Watfa;
- Al-Murshedi, Fathiya;
- Al-Jasmi, Fatma
Publication type:
Article
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 226, doi. 10.1002/jmd2.12426
By:
- Al‐Thihli, Khalid;
- Al Hashmi, Nadia;
- Al Balushi, Aaisha;
- Al‐Habsi, Asila;
- Al‐Ajmi, Eiman;
- Al‐Jasmi, Fatma;
- Al‐Murshedi, Fathiya
Publication type:
Article
Transient response to high‐dose niacin therapy in a patient with NAXE deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 212, doi. 10.1002/jmd2.12425
By:
- Al‐Amrani, Fatema;
- Al‐Thihli, Khalid;
- Al‐Ajmi, Eiman;
- Al‐Futaisi, Amna;
- Al‐Murshedi, Fathiya
Publication type:
Article
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48885-9
By:
- Al-Dirbashi, Osama Y.;
- Alfadhel, Majid;
- Al-Thihli, Khalid;
- Al Dhahouri, Nahid;
- Langhans, Claus-Dieter;
- Al Hammadi, Zalikha;
- Al-Shamsi, Aisha;
- Hertecant, Jozef;
- Okun, Jürgen G.;
- Hoffmann, Georg F.;
- Al-Jasmi, Fatma
Publication type:
Article
MLIP-Associated Myopathy: A Case Report and Review of the Literature.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 293, doi. 10.3233/JND-221520
By:
- Al Amrani, Fatema;
- Al-Thihli, Khalid;
- Narayanappa, Gayathri;
- Al-Maawali, Almundher
Publication type:
Article
Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1.
Published in:
Sultan Qaboos University Medical Journal, 2021, v. 21, n. 2, p. e312, doi. 10.18295/squmj.2021.21.02.023
By:
- Al-Hinai, Abdulhamid;
- Al-Murshedi, Fathiya;
- Al-Nabhani, Dana;
- Al-Thihli, Khalid
Publication type:
Article
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.
Published in:
Sultan Qaboos University Medical Journal, 2017, v. 17, n. 3, p. 355, doi. 10.18295/squmj.2017.17.03.018
By:
- Koul, Roshan;
- Al-Futaisi, Amna;
- Al-Thihli, Khalid;
- Bruwer, Zandre;
- Scott, Patrick
Publication type:
Article
Rigid Spine Syndrome among Children in Oman.
Published in:
Sultan Qaboos University Medical Journal, 2015, v. 15, n. 3, p. e364, doi. 10.18295/SQUMJ.2015.15.03.010
By:
- Koul, Roshan;
- Sankhla, Dilip;
- Al-Jahdhami, Suad;
- Mani, Renjith;
- Rahim, Rana A.;
- Al-Yaarubi, Saif;
- Al-Kindy, Hussein;
- Al-Thihli, Khalid;
- Al-Futaisi, Amna
Publication type:
Article
Joint Analysis of Phenotypic and Genomic Diversity Sheds Light on the Evolution of Xenobiotic Metabolism in Humans.
Published in:
Genome Biology & Evolution, 2022, v. 14, n. 12, p. 1, doi. 10.1093/gbe/evac167
By:
- Mouterde, Médéric;
- Daali, Youssef;
- Rollason, Victoria;
- Čížková, Martina;
- Mulugeta, Anwar;
- Balushi, Khalid A Al;
- Fakis, Giannoulis;
- Constantinidis, Theodoros C;
- Al-Thihli, Khalid;
- Černá, Marie;
- Makonnen, Eyasu;
- Boukouvala, Sotiria;
- Al-Yahyaee, Said;
- Yimer, Getnet;
- Černý, Viktor;
- Desmeules, Jules;
- Poloni, Estella S
Publication type:
Article
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Published in:
Clinical Genetics, 2023, v. 103, n. 4, p. 484, doi. 10.1111/cge.14290
By:
- Averdunk, Luisa;
- Al‐Thihli, Khalid;
- Surowy, Harald;
- Lüdecke, Hermann‐Josef;
- Drechsler, Matthias;
- Yigit, Gökhan;
- Smorag, Lukasz;
- Al Hallak, Bassam;
- Li, Yun;
- Altmüller, Janine;
- Guthoff, Tanja;
- Wallot, Michael;
- Nürnberg, Peter;
- Wollnik, Bernd;
- Jamra, Rami Abou;
- Al‐Maawali, Almundher;
- Wieczorek, Dagmar
Publication type:
Article
Deficiency of acyl‐CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
Published in:
Clinical Genetics, 2021, v. 99, n. 3, p. 376, doi. 10.1111/cge.13883
By:
- Al‐Thihli, Khalid;
- Afting, Cassian;
- Al‐Hashmi, Nadia;
- Mohammed, Mohammed;
- Sliwinski, Svenja;
- Al Shibli, Naema;
- Al‐Said, Khoula;
- Al‐Kasbi, Ghalia;
- Al‐Kharusi, Khalsa;
- Merle, Uta;
- Füllekrug, Joachim;
- Al‐Maawali, Almundher
Publication type:
Article
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 666, doi. 10.1111/cge.13678
By:
- Al‐Futaisi, Amna;
- Ahmad, Faraz;
- Al‐Kasbi, Ghalia;
- Al‐Thihli, Khalid;
- Koul, Roshan;
- Al‐Maawali, Almundher
Publication type:
Article
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Published in:
Clinical Genetics, 2018, v. 94, n. 6, p. 495, doi. 10.1111/cge.13438
By:
- Al‐Nabhani, Maryam;
- Al‐Rashdi, Samiya;
- Al‐Murshedi, Fathiya;
- Al‐Kindi, Adila;
- Al‐Thihli, Khalid;
- Al‐Saegh, Abeer;
- Al‐Futaisi, Amna;
- Al‐Mamari, Watfa;
- Zadjali, Fahad;
- Al‐Maawali, Almundher
Publication type:
Article
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 452, doi. 10.1007/s10875-022-01394-3
By:
- Al-Tamemi, Salem;
- Al-Zadjali, Shoaib;
- Bruwer, Zandre;
- Naseem, Shafiq-Ur-Rehman;
- Al-Siyabi, Nabila;
- ALRawahi, Mohammed;
- Alkharusi, Khalsa;
- Al-Thihli, Khalid;
- Al-Murshedi, Fathiya;
- AlSayegh, Abeer;
- Al-Maawali, Almundher;
- Dennison, David
Publication type:
Article
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.
Published in:
Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 207, doi. 10.1007/s10545-012-9578-7
By:
- Al-Thihli, Khalid;
- Sinclair, Graham;
- Sirrs, Sandra;
- Mezei, Michelle;
- Nelson, Judie;
- Vallance, Hilary
Publication type:
Article
Establishment and Validation of Reference Values for Amino Acids and Acylcarnitines in Dried Blood Spots for Omani Newborns Using Tandem Mass Spectrometry.
Published in:
Oman Medical Journal, 2022, v. 37, n. 5, p. 47, doi. 10.5001/omj.2022.88
By:
- Al-Riyami, Sulaiman;
- Al-Manei, Matar;
- Al-Fahdi, Assad;
- Al-Thihli, Khalid
Publication type:
Article
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1987, doi. 10.1002/ajmg.a.34094
By:
- Pilozzi-Edmonds, Laura;
- Maher, Thomas A.;
- Basran, Raveen K.;
- Milunsky, Aubrey;
- Al-Thihli, Khalid;
- Braverman, Nancy E.;
- Alfares, Ahmed
Publication type:
Article
Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect.
Published in:
Genes, 2022, v. 13, n. 2, p. 248, doi. 10.3390/genes13020248
By:
- Al-Alawi, Badriya;
- Harikrishna, Beena;
- Al-Thihli, Khalid;
- Al Zuhabi, Sana;
- Ganesh, Anuradha;
- Al Hashami, Zainab;
- Al Dhamhmani, Zeyana;
- Zadjali, Razan;
- Al Riyami, Nafila B.;
- Zadjali, Fahad
Publication type:
Article
Consanguinity, Endogamy and Inborn Errors of Metabolism in Oman: A Cross-Sectional Study.
Published in:
Human Heredity, 2014, v. 77, n. 1-4, p. 183, doi. 10.1159/000362686
By:
- Al-Thihli, Khalid;
- Al-Murshedi, Fathiya;
- Al-Hashmi, Nadia;
- Al-Mamari, Watfa;
- Islam, M. Mazharul;
- Al-Yahyaee, Said A.
Publication type:
Article
Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant.
Published in:
Sultan Qaboos University Medical Journal, 2023, v. 23, n. 4, p. 543, doi. 10.18295/squmj.8.2022.052
By:
- Al Housni, Samira;
- Al-Thihli, Khalid;
- Rahmatalla, Dafalla;
- Wali, Yasser;
- Al Rawahi, Yusriya
Publication type:
Article
Domino liver transplantation for maple syrup urine disease in children: A single‐center case series.
Published in:
Pediatric Transplantation, 2023, v. 27, n. 8, p. 1, doi. 10.1111/petr.14603
By:
- Kumar, Vikram;
- Gautam, Vipul;
- Agarwal, Shaleen;
- Pandey, Vijaykant;
- Goyal, Sumit;
- Nasa, Vaibhav;
- Singh, Shweta A.;
- Al‐Thihli, Khalid;
- Al‐Murshedi, Fathiya;
- Al Hashmi, Nadia;
- Al Rawahi, Yusriya;
- Al‐Bahlani, Al‐Qasim;
- Al Said, Khoula;
- Gupta, Subhash
Publication type:
Article
Safety of the Geneva Cocktail, a Cytochrome P450 and P-Glycoprotein Phenotyping Cocktail, in Healthy Volunteers from Three Different Geographic Origins.
Published in:
Drug Safety, 2020, v. 43, n. 11, p. 1181, doi. 10.1007/s40264-020-00983-8
By:
- Rollason, Victoria;
- Mouterde, Médéric;
- Daali, Youssef;
- Čížková, Martina;
- Priehodová, Edita;
- Kulichová, Iva;
- Posová, Helena;
- Petanová, Jitka;
- Mulugeta, Anwar;
- Makonnen, Eyasu;
- Al-Habsi, Abir;
- Davidson, Robin;
- Al-Balushi, Khalid K.;
- Al-Thihli, Khalid;
- Cerná, Marie;
- Al-Yahyaee, Said;
- Černý, Viktor;
- Yimer, Getnet;
- Poloni, Estella S.;
- Desmeules, Jules
Publication type:
Article
Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.
Published in:
Journal of Central Nervous System Disease, 2020, v. 12, p. 1, doi. 10.1177/1179573520909377
By:
- Al Jasmi, Fatma;
- Al Zaabi, Nuha;
- Al-Thihli, Khalid;
- Al Teneiji, Amal M;
- Hertecant, Jozef;
- El-Hattab, Ayman W
Publication type:
Article
Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.
Published in:
Journal of Central Nervous System Disease, 2020, p. 1, doi. 10.1177/1179573520909377
By:
- Al Jasmi, Fatma;
- Al Zaabi, Nuha;
- Al-Thihli, Khalid;
- Al Teneiji, Amal M;
- Hertecant, Jozef;
- El-Hattab, Ayman W
Publication type:
Article
Guidelines for acute management of hyperammonemia in the Middle East region.
Published in:
2016
By:
- Alfadhel, Majid;
- Al Mutairi, Fuad;
- Makhseed, Nawal;
- Al Jasmi, Fatma;
- Al-Thihli, Khalid;
- Al-Jishi, Emtithal;
- Alsayed, Moeenaldeen;
- Al-Hassnan, Zuhair N.;
- Al-Murshedi, Fathiya;
- Häberle, Johannes;
- Ben-Omran, Tawfeg;
- Mutairi, Fuad Al;
- Jasmi, Fatma Al
Publication type:
journal article

Found: 36