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Author/Creator Altassan, Ruqaiah

1. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. Issue 1 (11th February 2019)

Authors:
Williams, Monique; Valayannopoulos, Vassili; Altassan, Ruqaiah; Chung, Wendy K.; Heijboer, Annemieke C.; Keng, Wei Teik; Lapatto, Risto; McClean, Patricia; Mulder, Margot F.; Tylki‐Szymańska, Anna; Walenkamp, Marie‐Jose E.; Alfadhel, Majid; Alakeel, Hajar; Salomons, Gajja S.; Eyaid, Wafaa; Wameli...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
147
Record Type:
Journal Article
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2. Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation. Issue 4 (21st April 2020)

Authors:
Čechová, Anna; Altassan, Ruqaiah; Borgel, Delphine; Bruneel, Arnaud; Correia, Joana; Girard, Muriel; Harroche, Annie; Kiec‐Wilk, Beata; Mohnike, Klaus; Pascreau, Tiffany; Pawliński, Łukasz; Radenkovic, Silvia; Vuillaumier‐Barrot, Sandrine; Aldamiz‐Echevarria, Luis; Couce, Maria Luz; Martins, Esme...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 4(2020)
Page Start:
671
Record Type:
Journal Article
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3. Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin. Issue 12 (22nd October 2018)

Authors:
Balobaid, Ameera; Ben‐Omran, Tawfeg; Ramzan, Khushnooda; Altassan, Ruqaiah; Almureikhi, Mariam; Musa, Sara; Al‐Hashmi, Nadia; Al‐Owain, Mohammed; Al‐Zaidan, Hamad; Al‐Hassnan, Zuhair; Imtiaz, Faiqa; Al‐Sayed, Moeenaldeen
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2850
Record Type:
Journal Article
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4. Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype. Issue 4 (22nd March 2017)

Authors:
Altassan, Ruqaiah; Saud, Haya Al; Masoodi, Tariq Ahmad; Dosssari, Haya Al; Khalifa, Ola; Al‐Zaidan, Hamad; Sakati, Nadia; Rhabeeni, Zuhair; Al‐Hassnan, Zuhair; Binamer, Yousef; Alhashemi, Nadia; Wade, William; Al‐Zayed, Zayed; Al‐Sayed, Moeen; Al‐Muhaizea, Mohamed A.; Meyer, Brian; Al‐Owain, Moha...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 4(2017)
Page Start:
1009
Record Type:
Journal Article
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5. Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome. Issue 10 (21st July 2022)

Authors:
Altassan, Ruqaiah; Qudair, Ahmad; Alokaili, Riyadh; Alhasan, Khalid; Faqeih, Eissa A.; Alhashem, Amal; Alowain, Muhammed; Alsayed, Moeanaldeen; Rahbeeni, Zuhair; Albadi, Lama; Alkuraya, Fowzan S.; Anderson, Eric N.; Rajan, Deepa; Pandey, Udai Bhan
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 10(2022)
Page Start:
2932
Record Type:
Journal Article
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6. Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients. Issue 1 (25th November 2019)

Authors:
Moravej, Hossein; Altassan, Ruqaiah; Jaeken, Jaak; Enns, Gregory M.; Ellaway, Carolyn; Balasubramaniam, Shanti; De Lonlay, Pascale; Coman, David; Mercimek‐Andrews, Saadet; Witters, Peter; Morava, Eva
Journal:
JIMD reports
Issue:
Volume 51:Issue 1(2020)
Page Start:
76
Record Type:
Journal Article
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7. International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up. Issue 1 (11th February 2019)

Authors:
Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, Anna; Coman, David; Corral, Javier; Correia, Joana; de la Morena‐Barrio, María Eugenia; de Lonlay, Pascale; Dos Reis, Vanessa; Ferreira, Carlos R; Fiumara, Agata...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
5
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

8. International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up. Issue 1 (11th February 2019)

Authors:
Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, Anna; Coman, David; Corral, Javier; Correia, Joana; de la Morena‐Barrio, María Eugenia; de Lonlay, Pascale; Dos Reis, Vanessa; Ferreira, Carlos R; Fiumara, Agata...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
5
Record Type:
Journal Article
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9. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management. Issue 1 (15th September 2020)

Authors:
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, Sarah; Falkenstein, Kristina; Ferreira, Vanessa; Ferreira, Carlos; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Grunewald, Stephanie; Honzik, Tomas; Jaeken, Jaak; ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 1(2021)
Page Start:
148
Record Type:
Journal Article
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