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1

Phenotypic and Molecular Spectrum of Aicardi–Goutières Syndrome: a Study of 24 Patients

Al Mutairi, Fuad, Alfadhel, Majid, Nashabat, Marwan, El-Hattab, Ayman W., Ben-Omran, Tawfeg, Hertecant, Jozef, Eyaid, Wafaa, Ali, Rehab, Alasmari, Ali, Kara, Majdi, Al-Twaijri, Waleed, Filimban, Rana,

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

2

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

Majid Alfadhel, Makki Almuntashri, Raafat H Jadah…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 256 KB

english, 2013

3

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A., Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 410 KB

english, 2016

4

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders

Alfadhel, Majid, Al Othaim, Ali, Al Saif, Saif, Al Mutairi, Fuad, Alsayed, Moeenaldeen, Rahbeeni, Zuhair, Alzaidan, Hamad, Alowain, Mohammed, Al-Hassnan, Zuhair, Saeedi, Mohamad, Aljohery, Saeed, Alas

Journal:

Journal of Paediatrics and Child Health

Year:

2017

Language:

english

File:

PDF, 690 KB

english, 2017

5

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

Alsahli, Saud, Alrifai, Muhammad Talal, Al Tala, Saeed, Mutairi, Fuad Al, Alfadhel, Majid

Journal:

Journal of Central Nervous System Disease

Year:

2018

Language:

english

File:

PDF, 168 KB

english, 2018

6

Guidelines for acute management of hyperammonemia in the Middle East region

Alfadhel, Majid, Al Mutairi, Fuad, Makhseed, Nawal, Al Jasmi, Fatma, Al-Thihli, Khalid, Al-Jishi, Emtithal, Al-Sayed, Moeen, Al-Hassnan, Zuhair N, Al Murshedi, Fathiya, Häberle, Johannes, Ben-Omran, T

Journal:

Therapeutics and Clinical Risk Management

Year:

2016

Language:

english

File:

PDF, 350 KB

english, 2016

7

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways

Aldosary, Mazhor, Al-Bakheet, AlBandary, Al-Dhalaan, Hesham, Almass, Rawan, Alsagob, Maysoon, Al-Younes, Banan, AlQuait, Laila, Mustafa, Osama Mufid, Bulbul, Mustafa, Rahbeeni, Zuhair, Alfadhel, Majid

Journal:

Omics A Journal of Integrative Biology

Year:

2020

Language:

english

File:

PDF, 438 KB

english, 2020

8

Pre- and postnatal findings in a boy with duplication of the bladder and intestine: Report and review

Majid Alfadhel, Denise Pugash, Ashley James Robinson, James J. Murphy, Christof Senger, Kourosh Afshar, Linlea Armstrong

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 217 KB

english, 2009

9

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

Majid Alfadhel, Yolanda P. Lillquist, Paula J. Waters, Graham Sinclair, Eduard Struys, Deborah McFadden, Glenda Hendson, Lauren Hyams, John Shoffner, Hilary D. Vallance

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 612 KB

english, 2011

10

Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review

Majid Alfadhel, Yolanda P. Lillquist, Cynthia Davis, Anne K. Junker, Sylvia Stockler-Ipsiroglu

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 107 KB

english, 2011

11

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

Eyaid, Wafaa, Al Harbi, Talal, Anazi, Shamsa, Wamelink, Mirjam M. C., Jakobs, Cornelis, Al Salammah, Mohammad, Al Balwi, Mohammed, Alfadhel, Majid, Alkuraya, Fowzan S.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 461 KB

english, 2013

12

Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure

Al-Hussaini, Abdulrahman, Faqeih, Eissa, El-Hattab, Ayman W., Alfadhel, Majid, Asery, Ali, Alsaleem, Badr, Bakhsh, Eman, Ali, Ashraf, Alasmari, Ali, Lone, Khurram, Nahari, Ahmed, Eyaid, Wafaa, Al Balw

Journal:

The Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 1.23 MB

english, 2014

13

Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone

Tabarki, Brahim, Alfadhel, Majid, AlShahwan, Saad, Hundallah, Khaled, AlShafi, Shatha, AlHashem, Amel

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 456 KB

english, 2015

14

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

Hollink, Iris HIM, Alfadhel, Majid, Al-Wakeel, Anwar S, Ababneh, Farough, Pfundt, Rolph, de Man, Stella A, Jamra, Rami Abou, Rolfs, Arndt, Bertoli-Avella, Aida M, van de Laar, Ingrid MBH

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 360 KB

english, 2015

15

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

Shamseldin, Hanan E., Bennett, Alexis H., Alfadhel, Majid, Gupta, Vandana, Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.89 MB

english, 2016

16

Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy

Alfadhel, Majid, Sirrs, Sandra, Waters, Paula J., Szeitz, András, Struys, Eduard, Coulter-Mackie, Marion, Stockler-Ipsiroglu, Sylvia

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2012

File:

PDF, 102 KB

2012

17

Early-Onset Parkinsonism in a 5-year-old Child: Report and Review

Al-Rumayyan, Ahmed, Klein, Christine, Alfadhel, Majid

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 469 KB

english, 2015

18

Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency

Alrifai, Muhammad Talal, Alfadhel, Majid

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 224 KB

english, 2016

19

Diabetic ketoacidosis in vanishing white matter

Alamri, Hannadi, Al Mutairi, Fuad, Alothman, Johara, Alothaim, Ali, Alfadhel, Majid, Alfares, Ahmed

Journal:

Clinical Case Reports

Year:

2016

Language:

english

File:

PDF, 787 KB

english, 2016

20

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T.

Journal:

Year:

2016

Language:

english

File:

PDF, 718 KB

english, 2016

21

Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly

Alwadei, Ali H, Benini, Ruba, Mahmoud, Adel, Alasmari, Ali, Kamsteeg, Erik-Jan, Alfadhel, Majid

Journal:

Developmental Medicine & Child Neurology

Year:

2016

Language:

english

File:

PDF, 398 KB

english, 2016

22

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

Sass, Jörn Oliver, Gemperle-Britschgi, Corinne, Tarailo-Graovac, Maja, Patel, Nisha, Walter, Melanie, Jordanova, Albena, Alfadhel, Majid, Barić, Ivo, Çoker, Mahmut, Damli-Huber, Aynur, Faqeih, Eissa A

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 297 KB

english, 2016

23

A Lethal Neonatal Phenotype of Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency

Al Mutairi, Fuad, Shamseldin, Hanan E, Alfadhel, Majid, Rodenburg, Richard J., Alkuraya, Fowzan S

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

24

Rare genetic variant in theCFBgene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab

Alfakeeh, Khalid, Azar, Mohammed, Alfadhel, Majid, Abdullah, Alsuayri Mansour, Aloudah, Nourah, Alsaad, Khaled O.

Journal:

Pediatric Nephrology

Year:

2017

Language:

english

File:

PDF, 5.51 MB

english, 2017

25

Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations

Nashabat, Marwan, Maegawa, Gustavo, Nissen, Peter H., Nexo, Ebba, Al-Shamrani, Hussain, Al-Owain, Mohammed, Alfadhel, Majid

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2017

Language:

english

File:

PDF, 135 KB

english, 2017

26

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

Alfares, Ahmed, Alfadhel, Majid, Wani, Tariq, Alsahli, Saud, Alluhaydan, Iram, Al Mutairi, Fuad, Alothaim, Ali, Albalwi, Mohammed, Al subaie, Lamia, Alturki, Saeed, Al-Twaijri, Waleed, Alrifai, Muhamm

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 536 KB

english, 2017

27

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Ortigoza-Escobar, Juan Darío, Alfadhel, Majid, Molero-Luis, Marta, Darin, Niklas, Spiegel, Ronen, de Coo, Irenaeus F, Gerards, Mike, Taylor, Robert W, Artuch, Rafael, Nashabat, Marwan, Rodríguez-Pombo

Journal:

Annals of Neurology

Year:

2017

Language:

english

File:

PDF, 2.75 MB

english, 2017

28

Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula

Hossain, Mohammad Arif, Obaid, Abdulrahman, Rifai, Mohammad, Alem, Hala, Hazwani, Tarek, Al Shehri, Ali, Alfadhel, Majid, Eto, Yoshikatsu, Eyaid, Wafaa

Journal:

Human Genome Variation

Year:

2017

Language:

english

File:

PDF, 684 KB

english, 2017

29

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing

Gadomski, Therese E., Bolton, Melody, Alfadhel, Majid, Dvorak, Chris, Ogunsakin, Olalekan A., Nelson, Stephen L., Morava, Eva

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 292 KB

english, 2017

30

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

Windpassinger, Christian, Piard, Juliette, Bonnard, Carine, Alfadhel, Majid, Lim, Shuhui, Bisteau, Xavier, Blouin, Stéphane, Ali, Nur’Ain B., Ng, Alvin Yu Jin, Lu, Hao, Tohari, Sumanty, Talib, S. Zaki

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.86 MB

english, 2017

31

Molecular and clinical spectra of FBXL4 deficiency

El-Hattab, Ayman W., Dai, Hongzheng, Almannai, Mohammed, Wang, Julia, Faqeih, Eissa A., Al Asmari, Ali, Saleh, Mohammed A. M., Elamin, Mohammed A. O., Alfadhel, Majid, Alkuraya, Fowzan S., Hashem, Mai

Journal:

Year:

2017

Language:

english

File:

PDF, 873 KB

english, 2017

32

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review

Alfadhel, Majid, Tabarki, Brahim

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 245 KB

english, 2017

33

Further Delineation of the phenotypic spectrum of ISCA2 Defect: A Report of Ten New Cases

Alfadhel, Majid, Nashabat, Marwan, AlRifai, Muhammed Talal, Alshaalan, Hesham, Al Mutairi, Fuad, Al-Shahrani, Saif A., Plecko, Barbara, Almass, Rawan, Alsagob, Maysoon, Almutairi, Faten B., Al-Rumayya

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 5.94 MB

english, 2017

34

Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease

Alfadhel, Majid, Al-Bluwi, Amal

Journal:

Child Neurology Open

Year:

2017

Language:

english

File:

PDF, 129 KB

english, 2017

35

Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis

Alsultan, Abdulrahman, Basher, Enas, Alqanatish, Jubran, Mohammed, Reem, Alfadhel, Majid

Journal:

Pediatric Blood & Cancer

Year:

2017

Language:

english

File:

PDF, 291 KB

english, 2017

36

A new association between CDK5RAP2 microcephaly and congenital cataracts

Alfares, Ahmed, Alhufayti, Ibtihal, Alsubaie, Lamia, Alowain, Mohammed, Almass, Rawan, Alfadhel, Majid, Kaya, Namik, Eyaid, Wafaa

Journal:

Annals of Human Genetics

Year:

2017

Language:

english

File:

PDF, 524 KB

english, 2017

37

MPV17 -related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

El-Hattab, Ayman W., Wang, Julia, Dai, Hongzheng, Almannai, Mohammed, Staufner, Christian, Alfadhel, Majid, Gambello, Michael J., Prasun, Pankaj, Raza, Saleem, Lyons, Hernando J., Afqi, Manal, Saleh,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.10 MB

english, 2017

38

PRUNE Syndrome Is a New Neurodevelopmental Disorder

Alfadhel, Majid, Nashabat, Marwan, Hundallah, Khalid, Al Hashem, Amal, Alrumayyan, Ahmed, Tabarki, Brahim

Journal:

Child Neurology Open

Year:

2018

Language:

english

File:

PDF, 378 KB

english, 2018

39

Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review

Alfadhel, Majid

Journal:

Journal of Central Nervous System Disease

Year:

2017

Language:

english

File:

PDF, 210 KB

english, 2017

40

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome

Alsahli, Saud, Arold, Stefan T., Alfares, Ahmed, Alhaddad, Bader, Al Balwi, Mohammed, Kamsteeg, Erik-Jan, Al-Twaijri, Waleed, Alfadhel, Majid

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 854 KB

english, 2018

41

Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

Hollink, Iris H. I. M., Alfadhel, Majid, Al-Wakeel, Anwar S., Ababneh, Farough, Pfundt, Rolph, de Man, Stella A., Abou Jamra, Rami, Rolfs, Arndt, Bertoli-Avella, Aida M., van de Laar, Ingrid M. B. H.

Journal:

Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 225 KB

english, 2018

42

Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment

Alfadhel, Majid, Kattan, Rana

Journal:

Journal of Central Nervous System Disease

Year:

2014

Language:

english

File:

PDF, 391 KB

english, 2014

43

Risk of neuropsychiatric adverse effects of lipid-lowering drugs: a Mendelian Randomization study

Alghamdi, Jahad, Matou-Nasri, Sabine, Alghamdi, Faisal, Alghamdi,, Saleh, Alfadhel, Majid, Padmanabhan, Sandosh

Journal:

The International Journal of Neuropsychopharmacology

Year:

2018

Language:

english

File:

PDF, 675 KB

english, 2018

44

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients

AlGhamdi, Afnan, Alrifai, Muhammad Talal, Al Hammad, Abdullah I., Al Mutairi, Fuad, Alswaid, Abdulrahman, Eyaid, Wafaa, Alfadhel, Majid

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 410 KB

english, 2018

45

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation

Hijazi, Leen, Kashgari, Amna, Alfadhel, Majid

Journal:

Journal of Child Neurology

Year:

2018

File:

PDF, 194 KB

2018

46

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings

Al-Rakan, Maha A., Abothnain, Manal D., Alrifai, Muhammad T., Alfadhel, Majid

Journal:

BMC Ophthalmology

Year:

2018

Language:

english

File:

PDF, 690 KB

english, 2018

47

Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report

Alshenqiti, Abduljabbar, Nashabat, Marwan, AlGhoraibi, Hissah, Tamimi, Omar, Alfadhel, Majid

Journal:

Therapeutics and Clinical Risk Management

Year:

2017

Language:

english

File:

PDF, 2.20 MB

english, 2017

48

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation

Hijazi, Leen, Kashgari, Amna, Alfadhel, Majid

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 194 KB

english, 2018

49

Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations

Nashabat, Marwan, Al-Khenaizan, Sultan, Alfadhel, Majid

Journal:

Therapeutics and Clinical Risk Management

Year:

2018

Language:

english

File:

PDF, 578 KB

english, 2018

50

Tetrasomy 18p: case report and review of literature

Bawazeer, Shahad, Alshalan, Maha, Alkhaldi, Azizah, Alatwi, Nasser, AlBalwi, Mohammed, Alswaid, Abdulrahman, Alfadhel, Majid

Journal:

The Application of Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018