El-Hattab, Ayman: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Approach to Inborn Errors of Metabolism in Pediatrics

El-Hattab, Ayman W., Sutton, V. Reid

Journal:

Pediatric Clinics of North America

Year:

2018

Language:

english

File:

PDF, 168 KB

english, 2018

2

Inborn Errors of Metabolism

El-Hattab, Ayman W., Sutton, V. Reid

Journal:

Pediatric Clinics of North America

Year:

2018

File:

PDF, 24 KB

2018

3

Inborn Errors of Metabolism

El-Hattab, Ayman W.

Journal:

Clinics in Perinatology

Year:

2015

Language:

english

File:

PDF, 1.52 MB

english, 2015

4

WDR45B -related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: a consistent neurodevelopmental syndrome

Suleiman, Jehan, Allingham-Hawkins, Diane, Hashem, Mais, Shamseddin, Hanan, Alkuraya, Fowzan S., El-Hattab, Ayman W.

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.20 MB

english, 2017

5

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

6

OEIS complex associated with chromosome 1p36 deletion: A case report and review

Ayman W. El-Hattab, Josh C. Skorupski, Michael H. Hsieh, Amy M Breman, Ankita Patel, Sau Wai Cheung, William J. Craigen

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 174 KB

english, 2010

7

Chromosome 15q24 microdeletion syndrome

Pilar L Magoulas, Ayman W El-Hattab

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 301 KB

english, 2012

8

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review

Pilar L. Magoulas, Ayman W. El-Hattab, Angshumoy Roy, Deeksha S. Bali, Milton J. Finegold, William J. Craigen

Journal:

Human Pathology

Year:

2012

Language:

english

File:

PDF, 1.92 MB

english, 2012

9

78 MPV17—Associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations

Ayman W. El-Hattab, Fang-Yuan Li, Eric Schmitt, Shulin Zhang, William Craigen, Lee-Jun Wong

Journal:

Year:

2010

Language:

english

File:

PDF, 42 KB

english, 2010

10

Nitric oxide production in subjects with MELAS syndrome and the effect of arginine and citrulline supplementation: Interim results

Ayman El-Hattab⁎, William Craigen, Lee-Jun Wong, Farook Jahoor, Fernando Scaglia

Journal:

Year:

2011

Language:

english

File:

PDF, 59 KB

english, 2011

11

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

Pilar L Magoulas, Ayman W El-Hattab

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 180 KB

english, 2012

12

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome

El-Hattab, Ayman W., Emrick, Lisa T., Williamson, Kaitlin C., Craigen, William J., Scaglia, Fernando

Journal:

Year:

2013

Language:

english

File:

PDF, 123 KB

english, 2013

13

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

El-Hattab, Ayman W., Adesina, Adekunle M., Jones, Jeremy, Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

14

Disorders of carnitine biosynthesis and transport

El-Hattab, Ayman W., Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 739 KB

english, 2015

15

Serine biosynthesis and transport defects

El-Hattab, Ayman W.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 572 KB

english, 2016

16

Arginine and Citrulline for the Treatment of MELAS Syndrome

El-Hattab, Ayman W., Almannai, Mohammed, Scaglia, Fernando

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2017

Language:

english

File:

PDF, 159 KB

english, 2017

17

Therapies for mitochondrial diseases and current clinical trials

El-Hattab, Ayman W., Zarante, Ana Maria, Almannai, Mohammed, Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 276 KB

english, 2017

18

Inborn Errors of Metabolism with Seizures

Almannai, Mohammed, El-Hattab, Ayman W.

Journal:

Pediatric Clinics of North America

Year:

2017

Language:

english

File:

PDF, 529 KB

english, 2017

19

17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report

Wessel, Karen, Suleiman, Jehan, Khalaf, Tamam E., Kishore, Shivendra, Rolfs, Arndt, El-Hattab, Ayman W.

Journal:

BMC Medical Genetics

Year:

2017

Language:

english

File:

PDF, 467 KB

english, 2017

20

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Almannai, Mohammed, Wang, Julia, Dai, Hongzheng, El-Hattab, Ayman W., Faqeih, Eissa A., Saleh, Mohammed A., Al Asmari, Ali, AlWadei, Ali H., Aljadhai, Yaser I., AlHashem, Amal, Tabarki, Brahim M., Lin

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 12.77 MB

english, 2018

21

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations

Shaukat, Qudsia, Hertecant, Jozef, El-Hattab, Ayman W., Ali, Bassam R., Suleiman, Jehan

Journal:

Epileptic Disorders

Year:

2018

Language:

english

File:

PDF, 2.04 MB

english, 2018

22

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Segal, Michael M., George, Renee, Waltman, Peter, El-Hattab, Ayman W., James, Kiely N., Stanley, Valentina, Gleeson, Joseph

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 931 KB

2020

23

Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH

Gary Fruhman, Ayman W. El-Hattab, John W. Belmont, Ankita Patel, Sau Wai Cheung, V. Reid Sutton

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 178 KB

english, 2011

24

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency

Fang-Yuan Li, Ayman W. El-Hattab, Erawati V. Bawle, Richard G. Boles, Eric S. Schmitt, Fernando Scaglia, Lee-Jun Wong

Journal:

Year:

2010

Language:

english

File:

PDF, 392 KB

english, 2010

25

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Ayman W. El-Hattab, Teresa A. Smolarek, Martha E. Walker, Elizabeth K. Schorry, LaDonna L. Immken, Gayle Patel, Mary-Alice Abbott, Brendan C. Lanpher, Zhishuo Ou, Sung-Hae L. Kang, Ankita Patel, Ferna

Journal:

Year:

2009

Language:

english

File:

PDF, 504 KB

english, 2009

26

SURF1-associated leigh syndrome: A case series and novel mutations

Inn-Chi Lee, Ayman W. El-Hattab, Jing Wang, Fang-Yuan Li, Shao-Wen Weng, William J. Craigen, Lee-Jun C. Wong

Journal:

Year:

2012

Language:

english

File:

PDF, 369 KB

english, 2012

27

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations

Ayman W. El-Hattab, Fang-Yuan Li, Eric Schmitt, Shulin Zhang, William J. Craigen, Lee-Jun C. Wong

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 324 KB

english, 2010

28

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

Ayman W. El-Hattab, Jean W. Hsu, Lisa T. Emrick, Lee-Jun C. Wong, William J. Craigen, Farook Jahoor, Fernando Scaglia

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 643 KB

english, 2012

29

Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders

Ayman W. El-Hattab, Lisa T. Emrick, William J. Craigen, Fernando Scaglia

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 394 KB

english, 2012

30

Glucose kinetics in subjects with MELAS syndrome: Interim results

Ayman W. El-Hattab, Lisa Emrick, Jean W.C. Hsu, Farook Jahoor, Fernando Scaglia, William Craigen

Journal:

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

31

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

El-Hattab, Ayman W., Scaglia, Fernando

Journal:

Neurotherapeutics

Year:

2013

Language:

english

File:

PDF, 271 KB

english, 2013

32

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome

El-Hattab, Ayman W., Emrick, Lisa T., Williamson, Kaitlin C., Craigen, William J., Scaglia, Fernando

Journal:

Year:

2013

Language:

english

File:

PDF, 230 KB

english, 2013

33

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

34

Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome

El-Hattab, Ayman W., Emrick, Lisa T., Chanprasert, Sirisak, Craigen, William J., Scaglia, Fernando

Journal:

The International Journal of Biochemistry & Cell Biology

Year:

2014

Language:

english

File:

PDF, 582 KB

english, 2014

35

Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused by LARGE Mutations

Meilleur, Katherine G., Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L., Alsaman, Abdulaziz, El-Hattab, Ayman W., Dastgir, Jahannaz, Hu, Ying, Donkervoort,

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2014

Language:

english

File:

PDF, 12.54 MB

english, 2014

36

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai

Journal:

BMC Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

37

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

El-Hattab, Ayman W., Emrick, Lisa T., Hsu, Jean W., Chanprasert, Sirisak, Jahoor, Farook, Scaglia, Fernando, Craigen, William J.

Journal:

Year:

2014

Language:

english

File:

PDF, 684 KB

english, 2014

38

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

El-Hattab, Ayman W, Zhang, Feng, Maxim, Rolanda, Christensen, Katherine M, Ward, Jewell C, Hines-Dowell, Stacy, Scaglia, Fernando, Lupski, James R, Cheung, Sau Wai

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 1.51 MB

english, 2010

39

Utility of citrulline in treating hypoargininemia in children with MELAS

El-Hattab, Ayman W., Emrick, Lisa T., Chanprasert, Sirisak, Hsu, Jean W., Almannai, Mohammed, Craigen, William J., Jahoor, Farook, Scaglia, Fernando

Journal:

Year:

2015

Language:

english

File:

PDF, 67 KB

english, 2015

40

Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

El-Hattab, Ayman W, Li, Fang-Yuan, Shen, Joseph, Powell, Berkley R, Bawle, Erawati V, Adams, Darius J, Wahl, Erica, Kobori, Joyce A, Graham, Brett, Scaglia, Fernando, Wong, Lee-Jun

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 277 KB

english, 2010

41

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

El-Hattab, Ayman W., Emrick, Lisa T., Hsu, Jean W., Chanprasert, Sirisak, Almannai, Mohammed, Craigen, William J., Jahoor, Farook, Scaglia, Fernando

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 656 KB

english, 2016

42

Mitochondrial cytopathies

El-Hattab, Ayman W., Scaglia, Fernando

Journal:

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

43

On the phenotypic spectrum of serine biosynthesis defects

El-Hattab, Ayman W., Shaheen, Ranad, Hertecant, Jozef, Galadari, Hassan I., Albaqawi, Badi S., Nabil, Amira, Alkuraya, Fowzan S.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 3.00 MB

english, 2016

44

ADAT3 -related intellectual disability: Further delineation of the phenotype

El-Hattab, Ayman W., Saleh, Mohammed A., Hashem, Amal, Al-Owain, Mohammed, Asmari, Ali Al, Rabei, Hala, Abdelraouf, Hanem, Hashem, Mais, Alazami, Anas M., Patel, Nisha, Shaheen, Ranad, Faqeih, Eissa A

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 323 KB

english, 2016

45

The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients

Shaheen, Ranad, Al-Salam, Zakariya, El-Hattab, Ayman W., Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 453 KB

english, 2016

46

Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations

Abdullatif, Mustafa A., Al Dhaibani, Muna A., Khassawneh, Mohammad Y., El-Hattab, Ayman W.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1017 KB

english, 2016

47

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

Al Kaabi, Eiman H., El-Hattab, Ayman W.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 318 KB

english, 2016

48

cprFBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

Dai, Hongzheng, Zhang, Victor Wei, El-Hattab, Ayman W., Ficicioglu, Can, Shinawi, Marwan, Lines, Matthew, Schulze, Andreas, McNutt, Markey, Gotway, Garret, Tian, Xia, Chen, Stella, Wang, Jing, Craigen

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.24 MB

english, 2016

49

Letter to the Editor: “Unaltered L-arginine/NO pathway in a MELAS patient: Is mitochondrial NO synthase involved in the MELAS syndrome?”

El-Hattab, Ayman W.

Journal:

International Journal of Cardiology

Year:

2017

Language:

english

File:

PDF, 161 KB

english, 2017

50

Mitochondrial DNA maintenance defects

El-Hattab, Ayman W., Craigen, William J., Scaglia, Fernando

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2017

Language:

english

File:

PDF, 922 KB

english, 2017

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски