Works matching IS 21928312 AND DT 2019 AND VI 49 AND IP 1

Results: 17

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 48, doi. 10.1002/jmd2.12074

By:

Schlotawa, Lars;
Dierks, Thomas;
Christoph, Sophie;
Cloppenburg, Eva;
Ohlenbusch, Andreas;
Korenke, G. Christoph;
Gärtner, Jutta

Publication type:

Article

Profound vitamin D deficiency in four siblings with Imerslund‐Grasbeck syndrome with homozygous CUBN mutation.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 43, doi. 10.1002/jmd2.12072

By:

Ciancio, Jose I. R.;
Furman, Mark;
Banka, Siddharth;
Grunewald, Stephanie

Publication type:

Article

The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 107, doi. 10.1002/jmd2.12071

By:

Martins, Ana M.;
Cabrera, Gustavo;
Molt, Fernando;
Suárez‐Obando, Fernando;
Valdés, Régulo A.;
Varas, Carmen;
Yang, Meng;
Politei, Juan M.

Publication type:

Article

A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 37, doi. 10.1002/jmd2.12069

By:

Khalaf, Dina;
Bell, Heather;
Dale, David;
Gupta, Vikas;
Faghfoury, Hanna;
Morel, Chantal F.;
Tierens, Anne;
Weinstein, David A.;
Yan, Jiong;
Thyagu, Santhosh;
Maze, Dawn

Publication type:

Article

Clinical findings in Brazilian patients with adult GM1 gangliosidosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 96, doi. 10.1002/jmd2.12067

By:

Giugliani, Luciana;
Steiner, Carlos Eduardo;
Kim, Chong Ae;
Lourenço, Charles Marques;
Santos, Mara Lucia Schmitz Ferreira;
Souza, Carolina Fischinger Moura;
Brusius‐Facchin, Ana Carolina;
Baldo, Guilherme;
Riegel, Mariluce;
Giugliani, Roberto

Publication type:

Article

Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitization.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 30, doi. 10.1002/jmd2.12066

By:

Huffaker, Michelle F.;
Liu, Anne Y.;
Enns, Gregory M.;
Vijay, Suresh;
Amor, Antonio J.;
Adkinson, N. Franklin

Publication type:

Article

Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 21, doi. 10.1002/jmd2.12064

By:

Chang, Caitlin A.;
Wei, Xing‐Chang;
Martin, Steven R.;
Sinasac, David S.;
Al‐Hertani, Walla

Publication type:

Article

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 89, doi. 10.1002/jmd2.12062

By:

Lagler, Florian B.;
Moder, Angelika;
Rohrbach, Marianne;
Hennermann, Julia;
Mengel, Eugen;
Gökce, Seyfullah;
Hundsberger, Thomas;
Rösler, Kai M.;
Karabul, Nesrin;
Huemer, Martina

Publication type:

Article

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 17, doi. 10.1002/jmd2.12061

By:

Yamada, Kenji;
Matsubara, Keiichi;
Matsubara, Yuko;
Watanabe, Asami;
Kawakami, Sanae;
Ochi, Fumihiro;
Kuwabara, Kozue;
Mushimoto, Yuichi;
Kobayashi, Hironori;
Hasegawa, Yuki;
Fukuda, Seiji;
Yamaguchi, Seiji;
Taketani, Takeshi

Publication type:

Article

Clinical and neurophysiological characteristics of heterozygous NPC1 carriers.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 80, doi. 10.1002/jmd2.12059

By:

Benussi, Alberto;
Cotelli, Maria S.;
Cantoni, Valentina;
Bertasi, Valeria;
Turla, Marinella;
Dardis, Andrea;
Biasizzo, Jessica;
Manenti, Rosa;
Cotelli, Maria;
Padovani, Alessandro;
Borroni, Barbara

Publication type:

Article

Iron‐sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 11, doi. 10.1002/jmd2.12058

By:

Coelho, Margarida Paiva;
Correia, Joana;
Dias, Aureliano;
Nogueira, Célia;
Bandeira, Anabela;
Martins, Esmeralda;
Vilarinho, Laura

Publication type:

Article

Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy‐based formula.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 7, doi. 10.1002/jmd2.12056

By:

Sabatino, Julia A.;
Starin, Danielle;
Tuchman, Shamir;
Ferreira, Carlos;
Regier, Debra S.

Publication type:

Article

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 70, doi. 10.1002/jmd2.12055

By:

Scalais, Emmanuel;
Osterheld, Elise;
Geron, Christine;
Pierron, Charlotte;
Chafai, Ronit;
Schlesser, Vincent;
Borde, Patricia;
Regal, Luc;
Laeremans, Hilde;
Gassen, Koen L. I.;
Heuvel, L. Bert;
De Meirleir, Linda

Publication type:

Article

Education and training in adult metabolic medicine: Results of an international survey.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 63, doi. 10.1002/jmd2.12044

By:

Sechi, Annalisa;
Fabbro, Elisa;
Langeveld, Mirjam;
Tullio, Annarita;
Lachmann, Robin;
Mochel, Fanny

Publication type:

Article

Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 53, doi. 10.1002/jmd2.12043

By:

Haller, Christine;
Song, Wenjie;
Cimms, Tricia;
Chen, Chao‐Yin;
Whitley, Chester B.;
Wang, Raymond Y.;
Bauer, Mislen;
Harmatz, Paul

Publication type:

Article

A rare late progression form of Sly syndrome mucopolysaccharidosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 1, doi. 10.1002/jmd2.12039

By:

Guffon, Nathalie;
Froissart, Roseline;
Fouilhoux, Alain

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. N.PAG, doi. 10.1002/jmd2.12003
Publication type:: Article