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
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
Identification of the first genetic variants underlying metachromatic leukodystrophy in the Moroccan population by biochemical analyses and NGS-based genetic screening
del Castillo, Francisco J., Hammoud, Miloud, Assiri, Imane, Domínguez-Ruiz, María, Morado, Marta, Espinosa, Jesus Villarrubia, 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
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
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
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
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
Next-generation sequencing and high-throughput enzymolome-based panel screening of suspected lysosomal disease cases identifies multiple disease-causing variants in two genes underlying different lysosomal diseases: A source of clinical and metabolic variability?
del Castillo, Francisco J., Domínguez-Ruiz, María, Hammoud, Miloud, Ortiz-Galeana, Magdalena A., Assiri, Imane, Piris-Villaespesa, Miguel, Carrillo-Farga, Joaquín, Fdil, Naima, Jenkins, Robert, Ferrer, Manuel, Espinosa, Jesus Villarrubia
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 role of combination between TLC and UHPL/MS-MS in the diagnosis and prognosis of metachromatic leukodystrophy
Hammoud, Miloud, Sabir, Es-said, Assiri, Imane, Lafhal, Karima, Najeh, Samira, Saab, Imane ait, Bourrahouat, Aicha, Elqadiry, Rabiy, Nassih, Houda, Elamiri, My Ahmed, Maoulainine, Fadl Mrabih Rabou, Slitine, Nadia Elidriss, Bennaoui, Fatiha, Bourrous, Mounir, Rodrigues, Alice M.S., Stien, Didier, Mrhar, Soumia, Rada, Nourddine, Bouskraoui, Mohammed, Naima, Fdil
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article