Diagnosis of vitamin B deficiencies inducing inherited metabolic diseases (IMD) using GC-MS

Auteur: Samira Najeh , Es-said Sabir , Imane Assiri , Karima Lefhal , Miloud Hammoud , Hajar Elkorchi , Najib Kissani , Abdelkader Outzourith , Naima Fdi

Manifestation: 19th annual WORLD Symposium™ 2023

Date: 2023-02-22

Voir les détails →

The case of glycosylation defects mimicking Wilson disease: A case report

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

Manifestation: 19th annual WORLD Symposium™ 2023

Date: 2023-02-22

Voir les détails →

The role of combination between TLC and UHPL/MS-MS in the diagnosis and prognosis of metachromatic leukodystrophy

Auteur: 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

Manifestation: 19th annual WORLD Symposium™ 2023

Date: 2023-02-22

Voir les détails →

Isolated lactosylceramide storage: Is it the consequence of a specific protein deficiency?

Auteur: 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

Manifestation: 19th annual WORLD Symposium™ 2023

Date: 2023-02-22

Voir les détails →

Identification of the first genetic variants underlying metachromatic leukodystrophy in the Moroccan population by biochemical analyses and NGS-based genetic screening

Auteur: Francisco J. del Castillo , Miloud Hammoud , Imane Assiric , María Domínguez-Ruiz , Marta Morado , Jesus Villarrubia Espinosa , Naima FDIL

Manifestation: 19th annual WORLD Symposium™ 2023

Date: 2023-02-22

Voir les détails →

Next-generation sequencing and high-throughput enzymolomebased 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?

Auteur: Francisco J. del Castillo , María Domínguez-Ruiz , Miloud Hammoud , Magdalena A. Ortiz-Galeana , Imane Assiri , Miguel PirisVillaespesa , Joaquín Carrillo-Farga , Naima Fdil , Robert Jenkins , Manuel Ferreri , Jesus Villarrubia Espinosa

Manifestation: 19th annual WORLD Symposium™ 2022

Date: 2023-02-22

Voir les détails →

Timely diagnosis of Niemann Pick disease using thin layer chromatography with identification of SMPD1 mutations causing NPD type A/B among Moroccan population

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

Manifestation: The 19th Annual WORLDSymposium 2023 and the Lysosomal Disease Network

Date: 2023-02-22

Voir les détails →

اللجنة العلمية

Auteur: ربيعة العمراني الإدريسي، هشام فتح

Manifestation: الخطاب والتأويل

Date: 2023-02-22

Voir les détails →

مفهوم الحرث في القرآن الكريم: محاولة في الفهم والتأويل

Auteur: عبد الله بوفلجة

Manifestation: الخطاب والتأويل

Date: 2023-02-22

Voir les détails →

Génétique des pneumopathies interstitielles diffuses.

Auteur: Nisrine Aboussair

Manifestation: Table ronde sur les PID

Date: 2023-02-22

Voir les détails →

تسيير جلسة

Auteur: سناء السميج

Manifestation: الخطاب والتأويل

Date: 2023-02-22

Voir les détails →

تنسيق الندوة

Auteur: ريحانة اليندوزي

Manifestation: الخطاب والتأويل

Date: 2023-02-22

Voir les détails →
Titre
Auteur
Manifestation
Date
Type

Diagnosis of vitamin B deficiencies inducing inherited metabolic diseases (IMD) using GC-MS

10.1016/j.ymgme.2022.107235

Samira Najeh , Es-said Sabir , Imane Assiri , Karima Lefhal , Miloud Hammoud , Hajar Elkorchi , Najib Kissani , Abdelkader Outzourith , Naima Fdi
19th annual WORLD Symposium™ 2023
2023-02-22
Internationale

The case of glycosylation defects mimicking Wilson disease: A case report

10.1016/j.ymgme.2022.107191

Karima Lafhal , Es-Said Sabir , Miloud Hammoud , Abdelmohcine Aimrane , Samira Najeh, Imane Assiri , Fadl Mrabih Rabou Maoulainine , Aicha Bourrahouat , Elouafi Elaouni Kamili , Naima Fdil
19th annual WORLD Symposium™ 2023
2023-02-22
Internationale

The role of combination between TLC and UHPL/MS-MS in the diagnosis and prognosis of metachromatic leukodystrophy

10.1016/j.ymgme.2022.107138

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
19th annual WORLD Symposium™ 2023
2023-02-22
Internationale

Isolated lactosylceramide storage: Is it the consequence of a specific protein deficiency?

10.1016/j.ymgme.2022.107095

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
19th annual WORLD Symposium™ 2023
2023-02-22
Internationale

Identification of the first genetic variants underlying metachromatic leukodystrophy in the Moroccan population by biochemical analyses and NGS-based genetic screening

10.1016/j.ymgme.2022.107073

Francisco J. del Castillo , Miloud Hammoud , Imane Assiric , María Domínguez-Ruiz , Marta Morado , Jesus Villarrubia Espinosa , Naima FDIL
19th annual WORLD Symposium™ 2023
2023-02-22
Internationale

Next-generation sequencing and high-throughput enzymolomebased 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?

10.1016/j.ymgme.2022.107072

Francisco J. del Castillo , María Domínguez-Ruiz , Miloud Hammoud , Magdalena A. Ortiz-Galeana , Imane Assiri , Miguel PirisVillaespesa , Joaquín Carrillo-Farga , Naima Fdil , Robert Jenkins , Manuel Ferreri , Jesus Villarrubia Espinosa
19th annual WORLD Symposium™ 2022
2023-02-22
Internationale

Timely diagnosis of Niemann Pick disease using thin layer chromatography with identification of SMPD1 mutations causing NPD type A/B among Moroccan population

0.1016/j.ymgme.2022.107013

Imane Assiri , Miloud Hammoud , Samira Najeh , Es-said Sabir , Karima Lafhal , Aicha Bourrahouat , Mounir Bourrous , My Ahmed Elamiri , Naima Fdil
The 19th Annual WORLDSymposium 2023 and the Lysosomal Disease Network
2023-02-22
Internationale

اللجنة العلمية

ربيعة العمراني الإدريسي، هشام فتح
الخطاب والتأويل
2023-02-22
Nationale

مفهوم الحرث في القرآن الكريم: محاولة في الفهم والتأويل

عبد الله بوفلجة
الخطاب والتأويل
2023-02-22
Nationale

Génétique des pneumopathies interstitielles diffuses.

Nisrine Aboussair
Table ronde sur les PID
2023-02-22
Nationale

تسيير جلسة

سناء السميج
الخطاب والتأويل
2023-02-22
Nationale

تنسيق الندوة

ريحانة اليندوزي
الخطاب والتأويل
2023-02-22
Nationale
26558 résultats trouvés