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Subject 616.39042

41. A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands. Issue 5 (16th May 2019)

Authors:
Jager, Emmalie A.; Kuijpers, Myrthe M.; Bosch, Annet M.; Mulder, Margot F.; Gozalbo, Estela R.; Visser, Gepke; de Vries, Maaike; Williams, Monique; Waterham, Hans R.; van Spronsen, Francjan J.; Schielen, Peter C. J. I.; Derks, Terry G. J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 5(2019)
Page Start:
890
Record Type:
Journal Article
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42. A new case of UDP‐galactose transporter deficiency (SLC35A2‐CDG): molecular basis, clinical phenotype, and therapeutic approach. Issue 5 (17th March 2015)

Authors:
Dörre, K.; Olczak, M.; Wada, Y.; Sosicka, P.; Grüneberg, M.; Reunert, J.; Kurlemann, G.; Fiedler, B.; Biskup, S.; Hörtnagel, K.; Rust, S.; Marquardt, T.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 5(2015)
Page Start:
931
Record Type:
Journal Article
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43. A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection. Issue 2 (4th October 2020)

Authors:
Koga, Yasutoshi; Povalko, Nataliya; Inoue, Eisuke; Ishii, Akiko; Fujii, Katsunori; Fujii, Tatsuya; Murayama, Kei; Mogami, Yukiko; Hata, Ikue; Ikawa, Masamichi; Fukami, Kei; Fukumoto, Yoshihiro; Nomura, Masatoshi; Ichikawa, Kazuki; Yoshida, Kaori
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 2(2021)
Page Start:
358
Record Type:
Journal Article
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44. A new D‐galactose treatment monitoring index for PGM1‐CDG. Issue 5 (22nd June 2021)

Authors:
Perales‐Clemente, Ester; Liedtke, Kristen; Studinski, April; Radenkovic, Silvia; Gavrilov, Dimitar; Oglesbee, Devin; Matern, Dietrich; Rinaldo, Piero; Tortorelli, Silvia; Morava, Eva; Raymond, Kimiyo
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 5(2021)
Page Start:
1263
Record Type:
Journal Article
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45. A new metabolic disorder in human cationic amino acid transporter‐2 that mimics arginase 1 deficiency in newborn screening. Issue 3 (21st February 2019)

Authors:
Yahyaoui, Raquel; Blasco‐Alonso, Javier; Benito, Carmen; Rodríguez‐García, Enrique; Andrade, Fernando; Aldámiz‐Echevarría, Luis; Muñoz‐Hernández, María C.; Vega, Ana I.; Pérez‐Cerdá, Celia; García‐Martín, María L.; Pérez, Belén
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
407
Record Type:
Journal Article
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47. A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome. Issue 5 (27th April 2017)

Authors:
Lau, Adeline A.; King, Barbara M.; Thorsen, Carly L.; Hassiotis, Sofia; Beard, Helen; Trim, Paul J.; Whyte, Lauren S.; Tamang, Sarah J.; Duplock, Stephen K.; Snel, Marten F.; Hopwood, John J.; Hemsley, Kim M.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 5(2017)
Page Start:
715
Record Type:
Journal Article
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48. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. Issue 3 (14th September 2012)

Authors:
Pérez, Belén; Medrano, Celia; Ecay, Maria Jesus; Ruiz‐Sala, Pedro; Martínez‐Pardo, Mercedes; Ugarte, Magdalena; Pérez‐Cerdá, Celia
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 3(2013)
Page Start:
535
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗