A pilot investigation of muscle integrity in patients with ADSSL1 myopathy using electrical impedance myography
Farid, Alexander Rashad, Golden, Emma, Hu, Alice, Robicheau, Sara, Rutkove, Seward, Al‐Hertani, Walla, Upadhyay, Jaymin
Published in Muscle & nerve (01.11.2023)
Published in Muscle & nerve (01.11.2023)
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Journal Article
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data
Istaiti, Majdolen, Revel‐Vilk, Shoshana, Becker‐Cohen, Michal, Dinur, Tama, Ramaswami, Uma, Castillo‐Garcia, Daniela, Ceron‐Rodriguez, Magdalena, Chan, Alicia, Rodic, Predrag, Tincheva, Radka Stefanova, Al‐Hertani, Walla, Lee, Beom Hee, Yang, Chia‐Feng, Kiec‐Wilk, Beata, Fiumara, Agata, Rubio, Barbara, Zimran, Ari
Published in American journal of hematology (01.05.2021)
Published in American journal of hematology (01.05.2021)
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Journal Article
A checklist for managed access programmes for reimbursement co‐designed by Canadian patients and caregivers
Young, Andrea, Menon, Devidas, Street, Jackie, Al‐Hertani, Walla, Stafinski, Tania
Published in Health expectations : an international journal of public participation in health care and health policy (01.12.2018)
Published in Health expectations : an international journal of public participation in health care and health policy (01.12.2018)
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Journal Article
3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method
Sasarman, Florin, Ferdinandusse, Sacha, Sinasac, David S., Fung, Ernest, Sparkes, Rebecca, Reeves, Melanie, Rombough, Catherine, Sass, Jörn Oliver, Voit, Renate, Ruiter, Jos P. N., Koster, Janet, Waterham, Hans R., Pasquini, Elisabetta, Donati, Maria A., Marquardt, Thorsten, Wanders, Ronald J. A., Al‐Hertani, Walla
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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Journal Article
Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation
Chang, Caitlin A., Wei, Xing‐Chang, Martin, Steven R., Sinasac, David S., Al‐Hertani, Walla
Published in JIMD reports (01.09.2019)
Published in JIMD reports (01.09.2019)
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Journal Article
Identification of a de novo case of COL5A1‐related Ehlers‐Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care
Wardeh, Amr, Jackson, Tyson, Nelson, Beverly, Ernst, Carl, Théroux, Jean‐François, Al‐Hertani, Walla, Sobering, Andrew K., Maj, Mary C.
Published in Clinical case reports (01.11.2018)
Published in Clinical case reports (01.11.2018)
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Journal Article
Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review
Al-Hertani, Walla, Pathak, Ravi R, Evuarherhe, Obaro, Carter, Gemma, Schaeffer-Koziol, Carolyn R, Whiteman, David A H, Wright, Ekaterina
Published in International journal of molecular sciences (06.08.2024)
Published in International journal of molecular sciences (06.08.2024)
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Journal Article
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
Shelkowitz, Emily, Saneto, Russell P, Al-Hertani, Walla, Lubout, Charlotte M A, Stence, Nicholas V, Brown, Mark S, Long, Patrick, Walleigh, Diana, Nelson, Julie A, Perez, Francisco E, Shaw, Dennis W W, Michl, Emma J, Van Hove, Johan L K
Published in Orphanet journal of rare diseases (05.12.2022)
Published in Orphanet journal of rare diseases (05.12.2022)
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Journal Article
Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease
Charkhand, Behshad, Scantlebury, Morris H., Narita, Aya, Zimran, Ari, Al-Hertani, Walla
Published in Molecular genetics and metabolism reports (01.09.2019)
Published in Molecular genetics and metabolism reports (01.09.2019)
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Journal Article
Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
Shelkowitz, Emily, Saneto, Russell P, Al-Hertani, Walla, Lubout, Charlotte M A, Stence, Nicholas V, Brown, Mark S, Long, Patrick, Walleigh, Diana, Nelson, Julie A, Perez, Francisco E, Shaw, Dennis W W, Michl, Emma J, Van Hove, Johan L K
Published in Orphanet journal of rare diseases (13.03.2023)
Published in Orphanet journal of rare diseases (13.03.2023)
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Journal Article
Case report: Chronic pain in a pediatric patient with late-onset pompe disease
Cao, Amanda, van Gool, Raquel, Golden, Emma, Goodlett, Benjamin, Camelo, Carlos, Bujoreanu, Simona, Al-Hertani, Walla, Upadhyay, Jaymin
Published in Frontiers in pain research (Lausanne, Switzerland) (06.10.2023)
Published in Frontiers in pain research (Lausanne, Switzerland) (06.10.2023)
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Journal Article
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
Lévesque, Sébastien, Auray-Blais, Christiane, Gravel, Elaine, Boutin, Michel, Dempsey-Nunez, Laura, Jacques, Pierre-Etienne, Chenier, Sébastien, Larue, Sandrine, Rioux, Marie-France, Al-Hertani, Walla, Nadeau, Amelie, Mathieu, Jean, Maranda, Bruno, Désilets, Valérie, Waters, Paula J, Keutzer, Joan, Austin, Stephanie, Kishnani, Priya
Published in Orphanet journal of rare diseases (25.01.2016)
Published in Orphanet journal of rare diseases (25.01.2016)
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Journal Article
P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis
Ficicioglu, Can, Muschol, Nicole, Burton, Barbara, Magner, Martin, Gil-Campos, Mercedes, Rodriguez, Monica Lopez, Jayakar, Parul, Lund, Allan, Tal, Galit, Garcia-Ortiz, Jose Elias, Stepien, Karolina, Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara, Hennermann, Julia, Lampe, Christina, McNutt, Markey, Lagler, Florian, Scarpa, Maurizio, Sutton, Vernon, Guffon, Nathalie
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum
Chard, Marisa, Appendino, Juan Pablo, Bello-Espinosa, Luis E., Curtis, Colleen, Rho, Jong M., Wei, Xing-Chang, Al-Hertani, Walla
Published in Molecular genetics and metabolism reports (01.09.2019)
Published in Molecular genetics and metabolism reports (01.09.2019)
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Journal Article
ALG9-CDG: New clinical case and review of the literature
Davis, Kellie, Webster, Duncan, Smith, Chris, Jackson, Sheryl, Sinasac, David, Seargeant, Lorne, Wei, Xing-Chang, Ferreira, Patrick, Midgley, Julian, Foster, Yolanda, Li, Xueli, He, Miao, Al-Hertani, Walla
Published in Molecular genetics and metabolism reports (01.12.2017)
Published in Molecular genetics and metabolism reports (01.12.2017)
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Journal Article
Role of MyD88 in Diminished Tumor Necrosis Factor Alpha Production by Newborn Mononuclear Cells in Response to Lipopolysaccharide
Yan, Sen Rong, Qing, Gefei, Byers, David M., Stadnyk, Andrew W., Al-Hertani, Walla, Bortolussi, Robert
Published in Infection and Immunity (01.03.2004)
Published in Infection and Immunity (01.03.2004)
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Journal Article
Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism
Al‐Hertani, Walla, McGowan‐Jordan, Jean, Allanson, Judith E.
Published in American journal of medical genetics. Part A (01.06.2012)
Published in American journal of medical genetics. Part A (01.06.2012)
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Journal Article
Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication
Argiropoulos, Bob, Carter, Melissa, Brierley, Kathy, Hare, Heather, Bouchard, Amélie, Al‐Hertani, Walla, Ryan, Shannon R., Reid, Judith, Basik, Mark, McGowan‐Jordan, Jean, Graham, Gail E.
Published in American journal of medical genetics. Part A (01.04.2011)
Published in American journal of medical genetics. Part A (01.04.2011)
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Journal Article