المؤلفون: Karima Lafhal, Es-said Sabir, Abdelmalek Hakmaoui, Miloud Hammoud, Abdelmohcine Aimrane, Samira Najeh, Imane Assiri, Abdelaati Berrachid, Najwa Imad, Chaima Ait Boujemaa, Faissal Aziz, Fatima Zahra El Hanafi, Abdessamad Lalaoui, Hasna Aamri, Iryna Boyko, Ana Sánchez-Monteagudo, Carmen Espinós, Imane Ait Sab, Nisrine Aboussair, Aicha Bourrahouat, Naima Fdil

المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100984- (2023)

مصطلحات موضوعية: Wilson disease, Molecular genetic diagnosis, Mutations, ATP7B gene, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000307; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/2b5a71fe814d4cfc853165f69d5a9f6a

المؤلفون: Hammoud, M., Rodrigues, Alice, M. S., Assiri, I., Es-Said, Sabir, Lafhal, K., Najeh, S., Jakani, M., Imad, N., Bourrahouat, A., Ait Sab, I., Elqadiry, R., Nassih, H., Outzourit, A., Elamiri, M., Maoulainine, F., Slitine Elidrissi, N., Bennaoui, F., Bourous, M., Mrhar, S., Essaadouni, L., Stien, Didier, Rada, N., Bouskraoui, M., Houël, Emeline, Fdil, N.

المساهمون: Université Cadi Ayyad Marrakech (UCA), Laboratoire de Biodiversité et Biotechnologies Microbiennes (LBBM), PIERRE FABRE-EDF (EDF)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Observatoire océanologique de Banyuls (OOB), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1098-8823 ; Prostaglandins and Other Lipid Mediators ; https://hal.science/hal-04136431 ; Prostaglandins and Other Lipid Mediators, 2023, 168, pp.106751. ⟨10.1016/j.prostaglandins.2023.106751⟩.

مصطلحات موضوعية: Sphingolipidoses, Thin-Layer Chromatography, Tandem mass spectrometry, Sulfatides, Urine screening, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [CHIM.ANAL]Chemical Sciences/Analytical chemistry, [SDV.IB]Life Sciences [q-bio]/Bioengineering

الاتاحة: https://hal.science/hal-04136431
https://hal.science/hal-04136431v1/document
https://hal.science/hal-04136431v1/file/Pour%20HAL.pdf
https://doi.org/10.1016/j.prostaglandins.2023.106751

المؤلفون: Es-said, Sabir, Lafhal, Karima, Elkhiat, Abdelaati, Hammoud, Miloud, Regbaoui, Noureddine, Ezoubeiri, Aicha, Makbal, Rachida, Sbyea, Safia, Elhiba, Omar, Sellami, Souad, Rais, Hanane, Karim, Abdallah, Gamrani, Halima, Rada, Noureddine, Bouskraoui, Mohammed, Fdil, Naima

المصدر: Pharmaceutical Biology ; volume 60, issue 1, page 879-888 ; ISSN 1388-0209 1744-5116

الاتاحة: http://dx.doi.org/10.1080/13880209.2022.2068618
https://www.tandfonline.com/doi/pdf/10.1080/13880209.2022.2068618

المؤلفون: Naima Fdil, Es-Said Sabir

المصدر: Methods in Molecular Biology ISBN: 9781071629451

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::feddf08c16f714bd44822a0fb6cadf3c
https://doi.org/10.1007/978-1-0716-2946-8_5

المؤلفون: Mohammed Ait Babram, Fernando Andrade, Fadl Mrabih Rabou Maoulainine, Safia Sbyea, Imane Harkati, Noureddine Rada, Naima Fdil, Es-said Sabir, Luis Aldámiz-Echevarría, Abdallah Karim, Karima Lafhal, Mohammed Bouskraoui, Aicha Ezoubeiri, G. Draiss

المصدر: Pediatrics International. 62:1077-1085

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Urinary system, Mucopolysaccharidosis, Population, Reference range, Urine, 030204 cardiovascular system & hematology, Glycosaminoglycan, Young Adult, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Reference Values, 030225 pediatrics, Internal medicine, medicine, Humans, Mass Screening, In patient, Child, education, Glycosaminoglycans, education.field_of_study, Newborn screening, business.industry, Age Factors, Infant, Newborn, Infant, Mucopolysaccharidoses, medicine.disease, Methylene Blue, Morocco, Early Diagnosis, Spectrophotometry, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eebf1727dfa5fb4722a5d6accc8dc31a
https://doi.org/10.1111/ped.14278

المؤلفون: Abdelmohcine Aimrane, Mehdi Ait-Laaradia, Naima Fdil, Karima Warda, Hicham Chatoui, Ahmed Draoui, Soraia El Baz, Bilal El Mansoury, Nadia Zouhairi, Es-Said Sabir, Karima Lafhal, Miloud Hammoud

المصدر: Nutrition and Human Health ISBN: 9783030939700

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4f0da07020de05189a2bca6e39937fd0
https://doi.org/10.1007/978-3-030-93971-7_15

المؤلفون: Imane Assiri, Miloud Hammoud, Samira Najeh, Es-said Sabir, Karima Lafhal, Aicha Bourrahouat, Mounir Bourrous, My Ahmed Elamiri, Naima Fdil

المصدر: Molecular Genetics and Metabolism. 138:107013

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b6b47e0c61fca5281e99907a558c0290
https://doi.org/10.1016/j.ymgme.2022.107013

المؤلفون: Samira Najeh, Es-said Sabir, Imane Assiri, Karima Lefhal, Miloud Hammoud, Hajar Elkorchi, Najib Kissani, Abdelkader Outzourith, Naima Fdil, Majdouline Belaqziz

المصدر: Molecular Genetics and Metabolism. 138:107235

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::69073709575c3877c7fd37b775053d91
https://doi.org/10.1016/j.ymgme.2022.107235

المؤلفون: Karima Lafhal, Es-Said Sabir, Miloud Hammoud, Abdelmohcine Aimrane, Samira Najeh, Imane Assiri, Fadl Mrabih Rabou Maoulainine, Aicha Bourrahouat, Elouafi Elaouni Kamili, Naima Fdil

المصدر: Molecular Genetics and Metabolism. 138:107191

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7f1240003d47109208e2f51efc975a07
https://doi.org/10.1016/j.ymgme.2022.107191

المؤلفون: Miloud Hammoud, Es-said Sabir, Imane Assiri, Karima Lafhal, Samira Najeh, Imane ait Saab, Aicha Bourrahouat, Rabiy Elqadiry, Houda Nassih, My Ahmed Elamiri, Fadl Mrabih Rabou Maoulainine, Nadia Elidriss Slitine, Fatiha Bennaoui, Mounir Bourrous, Alice M.S. Rodrigues, Didier Stien, Soumia Mrhar, Nourddine Rada, Mohammed Bouskraoui, Fdil Naima

المصدر: Molecular Genetics and Metabolism. 138:107138

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::498199c7b24ad01bcb3d0bd8e254ff1e
https://doi.org/10.1016/j.ymgme.2022.107138

المؤلفون: Naima Fdil, Miloud Hammoud, Imane Assiri, Samira Najeh, Karima Lafhal, Es-Said Sabir, My Ahmed Elamiri, Lhoucine Gebrati, Zakaria Baki, Soumia Mrhar, Ghizlane Draiss, Mounir Bourrous, Francisco J. del Castillo, Fadl Mrabih Rabou Maoulainine, Noureddine Rada, Mohammed Bouskraoui

المصدر: Molecular Genetics and Metabolism. 138:107095

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a4d46d548371cdd94757d4a0e03e2841
https://doi.org/10.1016/j.ymgme.2022.107095

المؤلفون: Naima Fdil, Miloud Hammoud, Mohammed Bouskraoui, Es-said Sabir, Salwa Baki, Karima Lafhal, Aicha Bourrahouat, Imane Ait Saab, Laila Chabaa, Abdessamad Lalaoui, Mouna Cheggour, Aicha Ezoubeiri, Fatimazahra Mouad, Fadl Mrabih Rabou Maoulainine, Noureddine Rada

المصدر: Carbohydrate research. 498

مصطلحات موضوعية: Time Factors, Hypergalactosemia, 010402 general chemistry, Orcinol, 01 natural sciences, Biochemistry, Analytical Chemistry, Tyrosinemia, chemistry.chemical_compound, Neonatal Screening, Metabolic Diseases, medicine, Humans, Whole blood, Chromatography, 010405 organic chemistry, Organic Chemistry, Galactosemia, Infant, Newborn, Galactose, General Medicine, Metabolism, medicine.disease, 0104 chemical sciences, Standard curve, Early Diagnosis, chemistry, Colorimetry, Blood Chemical Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::500b39c7c619e6025f649520e9c7cfe6
https://pubmed.ncbi.nlm.nih.gov/33137585

المؤلفون: Es-Said Sabir, Karima Lafhal, Miloud Hammoud, Samira Najeh, Imane Assiri, Aicha Ezoubeiri, Naima Fdil

المصدر: Molecular Genetics and Metabolism. 135:S107

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::83bfff334d34f83f8a8813e55640cd43
https://doi.org/10.1016/j.ymgme.2021.11.282

المؤلفون: Fatiha Bennaoui, Noureddine Rada, Luis Aldámiz-Echevarría, Abdallah Karim, Abdellatif Daoudi, Abdessamad Lalaoui, Nadia El Idrissi Slitine, Naima Fdil, Fernando Andrade, Domingo González-Lamuňo, Brahim Boualy, Imane Ait Saab, Rabiy Elqadiry, Mohammed Bouskraoui, Es-said Sabir, Aicha Ezoubeiri, Aicha Bourrahouat, Adil Fouad

المساهمون: Universidad de Cantabria

المصدر: Clin Lab . 2020 Mar 1;66(3).
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
instname

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Urine screening, Adolescent, Mucopolysaccharidosis, Urinary system, Pilot Projects, Urine, Urinalysis, General Biochemistry, Genetics and Molecular Biology, Iduronidase, Internal medicine, medicine, Humans, skin and connective tissue diseases, Hurler syndrome, Child, Sanfilippo syndrome, Arylsulfatases, Glycosaminoglycans, chemistry.chemical_classification, business.industry, nutritional and metabolic diseases, Hunter syndrome, Mucopolysaccharidoses, medicine.disease, Morocco, Enzyme, chemistry, Child, Preschool, Female, Chromatography, Thin Layer, Dried Blood Spot Testing, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3da70d5eb69c6cd20057a021181979e6
http://hdl.handle.net/10902/21892

المؤلفون: Es-said Sabir, Abdelaati Elkhiat, Rachida Makbal, Hanan Rais, Souad Sellami, Aicha Bourrahouat, Naima Fdil, Aicha Ezoubeiri, Karima Lafhal, Miloud Hammoud

المصدر: Molecular Genetics and Metabolism. 132:S61

مصطلحات موضوعية: Rosa × damascena, Endocrinology, chemistry, Traditional medicine, Endocrinology, Diabetes and Metabolism, Genetics, chemistry.chemical_element, Biology, biology.organism_classification, Molecular Biology, Biochemistry, Copper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::05b53aa0c2cda01d17a70cdbf1c298fa
https://doi.org/10.1016/j.ymgme.2020.12.137

المؤلفون: Miloud Hammoud, Mohammed Bouskraoui, Es-said Sabir, Naima Fdil, Karima Lafhal, Nourrdine Rada

المصدر: Molecular Genetics and Metabolism. 132:S46

مصطلحات موضوعية: Metachromatic leukodystrophy, Pathology, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, medicine.disease, business, Molecular Biology, Biochemistry, Combined method

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3dc39460c3a35214cbe0149d72c428cb
https://doi.org/10.1016/j.ymgme.2020.12.097

المؤلفون: Abdallah Karim, Es-said Sabir, Abdelaati El Khiat, Aicha Ezoubeiri, Karima Lafhal, Miloud Hammoud, Naima Fdil

المصدر: Molecular Genetics and Metabolism. 132:S93

مصطلحات موضوعية: Endocrinology, Chemistry, Endocrinology, Diabetes and Metabolism, Path (graph theory), Genetics, Chelation, Substrate reduction therapy, Chondroitin sulfate A, Molecular Biology, Biochemistry, Nuclear chemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fd218e30d90674d963a0ab385033141a
https://doi.org/10.1016/j.ymgme.2020.12.224

المؤلفون: Safya Sbyea, Karima Lafhal, Fatima Zahra Mouad, Bouraghouat Aicha Bouraghouat, Mouna Cheggour, Es-said Sabir, Naima Fdil, Laila Chabaa

المصدر: Molecular Genetics and Metabolism. 126:S90

مصطلحات موضوعية: chemistry.chemical_classification, Analyte, Chromatography, Endocrinology, Diabetes and Metabolism, Galactosemia, Orcinol, medicine.disease, Biochemistry, Absorbance, Leloir pathway, chemistry.chemical_compound, Endocrinology, Enzyme, chemistry, Galactose, Genetics, medicine, Molecular Biology, Whole blood

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6f2b1a1bfe8aaba946e717531f959e12
https://doi.org/10.1016/j.ymgme.2018.12.222

المؤلفون: Naima Fdil, Mohammed Bouskraoui, Karima Lafhal, Rabiy Elqadiry, Naima Marzouki, Es-said Sabir, Nourrdin Radaa

المصدر: Molecular Genetics and Metabolism. 126:S128

مصطلحات موضوعية: Genetics, Endocrinology, Arylsulphatase B, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis type VI, Identification (biology), Biology, Molecular Biology, Biochemistry, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::836ff78f64323d2c8381825012b5f381
https://doi.org/10.1016/j.ymgme.2018.12.328