Usefulness of urinary glycosaminoglycans assay for a mucopolysaccharidosis‐specific screening
Sabir, Es‐Said, Lafhal, Karima, Ezoubeiri, Aicha, Harkati, Imane, Sbyea, Safia, Aldámiz‐Echevarría, Luis, Andrade, Fernando, Ait Babram, Mohammed, Maoulainine, Fadl Mrabih Rabou, Draiss, Ghizlane, Rada, Noureddine, Bouskraoui, Mohammed, Karim, Abdallah, Fdil, Naima
Published in Pediatrics international (01.09.2020)
Published in Pediatrics international (01.09.2020)
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Journal Article
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients
Lafhal, Karima, Sabir, Es-said, Hakmaoui, Abdelmalek, Hammoud, Miloud, Aimrane, Abdelmohcine, Najeh, Samira, Assiri, Imane, Berrachid, Abdelaati, Imad, Najwa, Boujemaa, Chaima Ait, Aziz, Faissal, El Hanafi, Fatima Zahra, Lalaoui, Abdessamad, Aamri, Hasna, Boyko, Iryna, Sánchez-Monteagudo, Ana, Espinós, Carmen, Sab, Imane Ait, Aboussair, Nisrine, Bourrahouat, Aicha, Fdil, Naima
Published in Molecular genetics and metabolism reports (01.09.2023)
Published in Molecular genetics and metabolism reports (01.09.2023)
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Journal Article
Update of a colorimetric method for quantitative determination of galactose in blood samples: A simple and rapid method for the early detection of inherited metabolic diseases
Lafhal, Karima, Sabir, Es-said, Cheggour, Mouna, Mouad, Fatimazahra, Hammoud, Miloud, Lalaoui, Abdessamad, Ezoubeiri, Aicha, Baki, Salwa, Chabaa, Laila, Maoulainine, Fadl Mrabih Rabou, Rada, Noureddine, Bouskraoui, Mohammed, Ait Saab, Imane, Bourrahouat, Aicha, Fdil, Naima
Published in Carbohydrate research (01.12.2020)
Published in Carbohydrate research (01.12.2020)
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Journal Article
Flaxseed extract reduces tissue accumulation and enhances urinary excretion of chondroitin sulphate in the rat: a possible new path in substrate reduction therapy for mucopolysaccharidosis
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
Published in Pharmaceutical biology (01.12.2022)
Published in Pharmaceutical biology (01.12.2022)
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Journal Article
Implementation of an Affordable Method for MPS Diagnosis from Urine Screening to Enzymatic Confirmation: Results of a Pilot Study in Morocco
Fdil, Naima, Sabir, Es-Said, Ezoubeiri, Aicha, Elqadiry, Rabiy, Daoudi, Abdellatif, Lalaoui, Abdessamad, Fouad, Adil, Rada, Noureddine, Slitine, Nadia, Bennaoui, Fatiha, Bourrahouat, Aicha, Saab, Imane Ait, Boualy, Brahim, Karim, Abdallah, Andrade, Fernando, González-Lamuňo, Domingo, Aldámiz-Echevarria, Luis, Bouskraoui, Mohammed
Published in Clinical laboratory (Heidelberg) (01.01.2020)
Published in Clinical laboratory (Heidelberg) (01.01.2020)
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Journal Article
Clinical features of Wilson disease in Moroccan cohort
Lafhal, Karima, Sabir, Es-Said, Hammoud, Miloud, Najeh, Samira, Assiri, Imane, Berrachid, Abdelaati, Jakani, Maroua, Bourrahouat, Aicha, Fdil, Naima
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Determination of urinary mannose by gas liquid chromatography mass spectrometry using a dried urine spot
Sabir, Es-Said, Lafhal, Karima, Hammoud, Miloud, Najeh, Samira, Assiri, Imane, Ezoubeiri, Aicha, Fdil, Naima
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
Timely diagnosis of Niemann Pick disease using thin layer chromatography with identification of SMPD1 mutations causing NPD type A/B among Moroccan population
Assiri, Imane, Hammoud, Miloud, Najeh, Samira, Sabir, Es-said, Lafhal, Karima, Bourrahouat, Aicha, Bourrous, Mounir, Elamiri, My Ahmed, Fdil, Naima
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Sialic acid related disorders diagnosis: The experience of the first Moroccan reference center of inherited metabolic diseases
Assiri, Imane, Sabir, Es-Said, Najeh, Samira, Hammoud, Miloud, Lafhal, Karima, Jakani, Maroua, Berrachid, Abdelaati, Elamiri, My Ahmed, Gebrati, Lhoucine, Bourrahouat, Aicha, Fdil, Naima
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
The role of GC–MS in organic acidurias diagnosis in Moroccan population
Najeh, Samira, Sabir, Es-Said, Assiri, Imane, Hammoud, Miloud, Lafhal, Karima, Jakani, Maroua, Berrachid, Abdelaati, Elamiri, My Ahmed, Gebrati, Lhoucine, Outzouhrit, Abdelkader, Fdil, Naima
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
A simple, non-invasive method for the diagnosis of glycogen storage disease type III in two patients with a similar facial appearance
Jakani, Maroua, Hammoud, Miloud, Berrachid, Abdelaati, Lafhal, Karima, Assiri, Imane, Najeh, Samira, Sabir, Es-Said, Sbyea, Safia, Baki, Zakaria, Fdil, Naima
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Chelating effect of flax seed extract in rats overloaded with chondroitin sulfate: A new path in substrate reduction therapy for mucoplysccharidosis
Sabir, Es-said, Lafhal, Karima, El Khiat, Abdelaati, Hammoud, Miloud, Ezoubeiri, Aicha, Karim, Abdallah, Fdil, Naima
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Journal Article
Diagnosis of vitamin B deficiencies inducing inherited metabolic diseases (IMD) using GC-MS
Najeh, Samira, Sabir, Es-said, Assiri, Imane, Lefhal, Karima, Hammoud, Miloud, Elkorchi, Hajar, Kissani, Najib, Outzourith, Abdelkader, Fdil, Naima, Belaqziz, Majdouline
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
The case of glycosylation defects mimicking Wilson disease: A case report
Lafhal, Karima, Sabir, Es-Said, Hammoud, Miloud, Aimrane, Abdelmohcine, Najeh, Samira, Assiri, Imane, Maoulainine, Fadl Mrabih Rabou, Bourrahouat, Aicha, Kamili, Elouafi Elaouni, Fdil, Naima
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
The utilization of a combination of TLC-UHPL/MS-MS and molecular networking in the assessment and prediction of Fabry and Sandhoff diseases
Hammoud, Miloud, Assiri, Imane, Lafhal, Karima, Sabir, Es-Said, Najeh, Samira, Jakani, Maroua, Berrachid, Abdelaati, Gebrati, Lhoucine, Elamiri, My Ahmed, del Castillo Fernandez del Pino, Francisco Javier, Rada, Nourddine, Fdil, Naima
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Isolated lactosylceramide storage: Is it the consequence of a specific protein deficiency?
Fdil, Naima, Hammoud, Miloud, Assiri, Imane, Najeh, Samira, Lafhal, Karima, Sabir, Es-Said, Elamiri, My Ahmed, Gebrati, Lhoucine, Baki, Zakaria, Mrhar, Soumia, Draiss, Ghizlane, Bourrous, Mounir, del Castillo, Francisco J., Maoulainine, Fadl Mrabih Rabou, Rada, Noureddine, Bouskraoui, Mohammed
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene (ARSB) in Moroccan patient
Sabir, Es-Said, Marzouki, Naima, Lafhal, Karima, Elqadiry, Rabiy, Radaa, Nourrdin, Bouskraoui, Mohammed, Fdil, Naima
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article