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Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Published in:
European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2547, doi. 10.1007/s00431-023-05012-1
By:
- Abukhaled, Musaad;
- Al Muqbil, Mohammed;
- Alghamdi, Malak Ali;
- Hundallah, Khalid;
- Suleiman, Jehan;
- Ben-Omran, Tawfeg;
- Alfadhel, Majid;
- Almannai, Mohammed;
- Alsaleh, Rehab;
- Tabarki, Brahim
Publication type:
Article
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Published in:
European Journal of Pediatrics, 2023, v. 182, n. 6, p. 2535, doi. 10.1007/s00431-023-04886-5
By:
- Abukhaled, Musaad;
- Al Muqbil, Mohammed;
- Alghamdi, Malak Ali;
- Hundallah, Khalid;
- Suleiman, Jehan;
- Ben-Omran, Tawfeg;
- Alfadhel, Majid;
- Almannai, Mohammed;
- Alsaleh, Rehab;
- Tabarki, Brahim
Publication type:
Article
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 312, doi. 10.1002/jmd2.12384
By:
- Alghamdi, Malak Ali;
- O'Donnell‐Luria, Anne;
- Almontashiri, Naif A.;
- AlAali, Wajeih Y.;
- Ali, Hebatallah H.;
- Levy, Harvey L.
Publication type:
Article
Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.
Published in:
Children, 2022, v. 9, n. 9, p. N.PAG, doi. 10.3390/children9091335
By:
- Alhasan, Khalid A.;
- Alshuaibi, Walaa;
- Hamad, Muddathir H.;
- Salim, Suha;
- Jamjoom, Dima Z.;
- Alhashim, Aqeela H.;
- AlGhamdi, Malak Ali;
- Kentab, Amal Y.;
- Bashiri, Fahad A.
Publication type:
Article
Atypical Presentation of Pallister--Hall Syndrome with Central Precious Puberty.
Published in:
2022
By:
- Omer, Hala Gasim;
- Alhakami, Amal Ali;
- Alghamdi, Malak Ali;
- Al Khalifah, Reem Abdullah
Publication type:
Case Study
Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.
Published in:
Clinical Case Reports, 2021, v. 9, n. 1, p. 229, doi. 10.1002/ccr3.3504
By:
- Alghamdi, Malak Ali;
- Alkhamis, Waleed H.;
- Jamjoom, Dima Z.;
- Al Khalifah, Reem;
- Alshammari, Nawaf Rahi;
- Alsumaili, Khalid;
- Arold, Stefan T.
Publication type:
Article
A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings.
Published in:
Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.599564
By:
- Alghamdi, Malak Ali;
- Mulla, Jaazeel;
- Saheb Sharif-Askari, Narjes;
- Guzmán-Vega, Francisco J.;
- Arold, Stefan T.;
- Abd-Alwahed, Mervat;
- Alharbi, Nasser;
- Kashour, Tarek;
- Halwani, Rabih
Publication type:
Article
Molecular autopsy by proxy in preconception counseling.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 678, doi. 10.1111/cge.14049
By:
- Ali Alghamdi, Malak;
- Alrasheedi, Ameinah;
- Alghamdi, Esra;
- Adly, Nouran;
- AlAali, Wajeih Y.;
- Alhashem, Amal;
- Alshahrani, Abdulaziz;
- Shamseldin, Hanan;
- Alkuraya, Fowzan S.;
- Alfadhel, Majid
Publication type:
Article
Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy.
Published in:
Clinical Genetics, 2021, v. 99, n. 4, p. 513, doi. 10.1111/cge.13905
By:
- Abbasi‐Moheb, Lia;
- Westenberger, Ana;
- Alotaibi, Maha;
- Alghamdi, Malak Ali;
- Hertecant, Jozef L.;
- Ariamand, Amir;
- Beetz, Christian;
- Rolfs, Arndt;
- Bertoli‐Avella, Aida M.;
- Bauer, Peter
Publication type:
Article
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.
Published in:
2022
By:
- Ali Alghamdi, Malak;
- Benabdelkamel, Hicham;
- Masood, Afshan;
- Saheb Sharif-Askari, Narjes;
- Hachim, Mahmood Y.;
- Alsheikh, Hamad;
- Hamad, Muddathir H.;
- Salih, Mustafa A.;
- Bashiri, Fahad A.;
- Alhasan, Khalid;
- Kashour, Tarek;
- Guatibonza Moreno, Pilar;
- Schröder, Sabine;
- Karageorgou, Vasiliki;
- Bertoli-Avella, Aida M.;
- Alkhalidi, Hisham;
- Jamjoom, Dima Z.;
- Alorainy, Ibrahim A.;
- Alfadda, Assim A.;
- Halwani, Rabih
Publication type:
Case Study

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