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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
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
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
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
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
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
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

Found: 17