Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

by F. Habarou, A. Brassier, M. Rio, D. Chrétien, S. Monnot, V. Barbier, R. Barouki, J.P. Bonnefont, N. Boddaert, B. Chadefaux-Vekemans, L. Le Moyec, J. Bastin, C. Ottolenghi, P. de Lonlay
Published 2015-03-01

Refining low protein modular feeds for children on low protein tube feeds with organic acidaemias

by A. Daly, S. Evans, C. Ashmore, S. Chahal, S. Santra, A. MacDonald
Published 2017-12-01

Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II

by Lock-Hock Ngu, Winnie Ong Peitee, Huey Yin Leong, Hui Bein Chew
Published 2017-09-01

Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

by Molly Stapleton, Francyne Kubaski, Robert W. Mason, Haruo Shintaku, Hironori Kobayashi, Seiji Yamaguchi, Takeshi Taketani, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Published 2020-03-01

The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

by Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, Manisha Balwani
Published 2020-03-01

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

by Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci, Vincenzo Leuzzi, Filippo Manti, Antonella Musumeci, Francesco Papadia, Vera Stoppioni, Albina Tummolo, Marcella Vendemiale, Giulia Polo, Alberto Burlina
Published 2018-09-01

Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease

by Jevnikar Mitja, Kodric Metka, Cantarutti Fabiana, Rossella Cifaldi, Cinzia Longo, Della Porta Rossana, Bembi Bruno, Confalonieri Marco
Published 2015-12-01

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

by Taraka R. Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa T. Emrick, Sarah H. Elsea
Published 2016-09-01

Higher oxidative stress in skeletal muscle of McArdle disease patients

by Jan J. Kaczor, Holly A. Robertshaw, Mark A. Tarnopolsky
Published 2017-09-01

Pain in adult patients with Pompe disease

by N. Karabul, M.E. Kruijshaar, A. Schober, D. Güngör, F. Hanisch
Published 2014-01-01

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

by Anneliese L. Barth, Tatiana S.P.C. de Magalhães, Ana Beatriz R. Reis, Maria Lucia de Oliveira, Fernanda B. Scalco, Nicolette C. Cavalcanti, Daniel S. e Silva, Danielle A. Torres, Alessandra A.P. Costa, Carmem Bonfim, Roberto Giugliani, Juan C. Llerena, Jr, Dafne D.G. Horovitz
Published 2017-09-01

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

by I.A. Meijer, F. Sasarman, C. Maftei, E. Rossignol, M. Vanasse, P. Major, G.A. Mitchell, C. Brunel-Guitton
Published 2015-12-01

Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice

by Gregory Costain, Aideen M. Moore, Lauren Munroe, Alison Williams, Randi Zlotnik Shaul, Cheryl Rockman-Greenberg, Martin Offringa, Peter Kannu
Published 2018-03-01

Disease-associated marked hyperalphalipoproteinemia

by Ken-ichi Hirano, Hironori Nagasaka, Kazuhiro Kobayashi, Satoshi Yamaguchi, Akira Suzuki, Tatsushi Toda, Manabu Doyu
Published 2014-01-01

Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?

by Carmen Rohde, Alena Gerlinde Thiele, Ulrike Och, Katrin Schönherr, Uta Meyer, Stefanie Rosenbaum-Fabian, Cornelia Maddalon, Sabine Matzken, Holger Blessing, Frauke Lang, Monika Jörg-Streller, Skadi Beblo
Published 2015-12-01

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records

by Hardo Lilleväli, Karit Reinson, Kai Muru, Siret Saarsalu, Kadi Künnapas, Tiina Kahre, Ülle Murumets, Katrin Õunap
Published 2019-06-01

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling

by Li Ou, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-Utz
Published 2019-09-01

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy

by Ankit K. Desai, Zoheb B. Kazi, Deeksha S. Bali, Priya S. Kishnani
Published 2019-09-01

Very rare condition of multiple Gaucheroma: A case report and review of the literature

by Szu-Yin Tseng, Dau-Ming Niu, Tzu-Hung Chu, Yi-Chen Yeh, Man-Hsu Huang, Tsui-Feng Yang, Hsuan-Chieh Liao, Chuan-Chi Chiang, Hui-Chen Ho, Wen-Jue Soong, Chia-Feng Yang
Published 2019-09-01

Response to Gelb et al.: “Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs”

by David S. Millington
Published 2017-09-01