Works matching IS 21928312 AND DT 2021 AND VI 59 AND IP 1

Results: 16

Wanted: A vocabulary for talking about involuntary behaviors associated with Lesch‐Nyhan disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 26, doi. 10.1002/jmd2.12210

By:

Robey, Kenneth L.;
Balboni, Daniel C.

Publication type:

Article

A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 20, doi. 10.1002/jmd2.12209

By:

Alstrup, Morten;
Vogel, Ida;
Sandager, Puk;
Blechingberg, Jenny;
Becher, Naja;
Østergaard, Elsebet

Publication type:

Article

Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 16, doi. 10.1002/jmd2.12208

By:

Tramontana, Timothy F.;
Wilson, Theodore E.;
Hainline, Bryan E.

Publication type:

Article

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 110, doi. 10.1002/jmd2.12207

By:

de Lonlay, Pascale;
Posset, Roland;
Mütze, Ulrike;
Mention, Karine;
Lamireau, Delphine;
Schiff, Manuel;
Servais, Aude;
Arnoux, Jean Baptiste;
Brassier, Anaïs;
Dao, Myriam;
Douillard, Claire;
Ottolenghi, Chris;
Pontoizeau, Clément;
Miotto, Federica;
Le Mouhaër, Jeannie

Publication type:

Article

[<sup>13</sup>C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 104, doi. 10.1002/jmd2.12205

By:

Ficicioglu, Can;
Demirbas, Didem;
Derks, Britt;
Pai, G. Shashidhar;
Timson, David J.;
Rubio‐Gozalbo, Maria Estela;
Berry, Gerard T.

Publication type:

Article

Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 90, doi. 10.1002/jmd2.12204

By:

Kingma, Sandra D. K.;
Ceulemans, Berten;
Kenis, Sandra;
Jonckheere, An I.

Publication type:

Article

Uptake of moss‐derived human recombinant GAA in Gaa<sup>−/−</sup> mice.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 81, doi. 10.1002/jmd2.12203

By:

Hintze, Stefan;
Dabrowska‐Schlepp, Paulina;
Berg, Birgit;
Graupner, Alexandra;
Busch, Andreas;
Schaaf, Andreas;
Schoser, Benedikt;
Meinke, Peter

Publication type:

Article

Psychological well‐being of early and continuously treated phenylketonuria patients.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 69, doi. 10.1002/jmd2.12202

By:

Thiele, Alena Gerlinde;
Spieß, Nicole;
Ascherl, Rudolf;
Arelin, Maria;
Rohde, Carmen;
Kiess, Wieland;
Beblo, Skadi

Publication type:

Article

Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 60, doi. 10.1002/jmd2.12201

By:

Limgala, Renuka Pudi;
Furtak, Vyacheslav;
Ivanova, Margarita M.;
Changsila, Erk;
Wilks, Floyd;
Fidelia‐Lambert, Marie N.;
Goker‐Alpan, Ozlem;
Gondré‐Lewis, Marjorie C.

Publication type:

Article

The natural history of glycogen storage disease type Ib in England: A multisite survey.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 52, doi. 10.1002/jmd2.12200

By:

Halligan, Rebecca;
White, Fiona J.;
Schwahn, Bernd;
Stepien, Karolina M.;
Kamarus Jaman, Nazreen;
McSweeney, Mel;
Kitchen, Steve;
Gribben, Joanna;
Dawson, Charlotte;
Lewis, Katherine;
Cregeen, David;
Mundy, Helen;
Santra, Saikat

Publication type:

Article

Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 42, doi. 10.1002/jmd2.12199

By:

Bozaci, Ayse Ergul;
Er, Esra;
Yazici, Havva;
Canda, Ebru;
Kalkan Uçar, Sema;
Güvenc Saka, Merve;
Eraslan, Cenk;
Onay, Hüseyin;
Habif, Sara;
Thöny, Beat;
Coker, Mahmut

Publication type:

Article

Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 10, doi. 10.1002/jmd2.12198

By:

Strandbech, Olivia Sarah;
Lund, Allan;
Ostergaard, Elsebet

Publication type:

Article

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 3, doi. 10.1002/jmd2.12197

By:

Guenzel, Adam J.;
DeBarber, Andrea;
Raymond, Kimiyo;
Dhamija, Radhika

Publication type:

Article

A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 32, doi. 10.1002/jmd2.12196

By:

Pal, Maitou;
Lace, Baiba;
Labrie, Yvan;
Laflamme, Nathalie;
Rioux, Nadie;
Setty, Samarth Thonta;
Dugas, Marc‐Andre;
Gosselin, Louise;
Droit, Arnaud;
Chrestian, Nicolas;
Rivest, Serge

Publication type:

Article

Recurrent fetal truncus arteriosus associated with PMM2‐CDG.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 120, doi. 10.1002/jmd2.12193

By:

Malheiro, Filipa;
Silva, Manuela;
Macedo, Carlos;
Ramalho, Carla

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 1, doi. 10.1002/jmd2.12138
Publication type:: Article