Works matching IS 21928312 AND DT 2022 AND VI 63 AND IP 4

Results: 15

Ascites in infantile onset type II Sialidosis.

Published in:

2022

By:

Tazi, Kaoutar;
Guy‐Viterbo, Vanessa;
Gheldof, Alexander;
Empain, Aurélie;
Paternoster, Anne;
De Laet, Corinne

Publication type:

Case Study

Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 309, doi. 10.1002/jmd2.12304

By:

Tallis, Eran;
Karsenty, Cecile L.;
Grimes, Amanda B.;
Karam, Lina B.;
Elsea, Sarah H.;
Sutton, Vernon Reed;
Rawls‐Castillo, Brandy L.;
Liu, Ning;
Soler‐Alfonso, Claudia

Publication type:

Article

Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 361, doi. 10.1002/jmd2.12290

By:

Cant, Harriet E. O.;
Chatzidaki, Iro;
Olsson, Birgitta;
Rudebeck, Mattias;
Arnoux, Jean‐Baptiste;
Imrich, Richard;
Eddowes, Lucy A.;
Ranganath, Lakshminarayan R.

Publication type:

Article

Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib.

Published in:

2022

By:

Grünert, Sarah Catharina;
Rosenbaum‐Fabian, Stefanie;
Schumann, Anke;
Selbitz, Anne‐Christine;
Merz, Waltraut;
Gieselmann, Andrea;
Spiekerkoetter, Ute

Publication type:

Case Study

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 292, doi. 10.1002/jmd2.12293

By:

Laugwitz, Lucia;
Santhanakumaran, Vidiyaah;
Spieker, Mareike;
Boehringer, Judith;
Bender, Benjamin;
Gieselmann, Volkmar;
Beck‐Woedl, Stefanie;
Bruchelt, Gernot;
Harzer, Klaus;
Kraegeloh‐Mann, Ingeborg;
Groeschel, Samuel

Publication type:

Article

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 276, doi. 10.1002/jmd2.12292

By:

Tummolo, Albina;
Leone, Piero;
Tolomeo, Maria;
Solito, Rita;
Mattiuzzo, Matteo;
Lepri, Francesca Romana;
Lorè, Tania;
Cardinali, Roberta;
De Giovanni, Donatella;
Simonetti, Simonetta;
Barile, Maria

Publication type:

Article

Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 371, doi. 10.1002/jmd2.12291

By:

Maier, Stefanie;
Zivicnjak, Miroslav;
Grigull, Lorenz;
Hennermann, Julia B.;
Aries, Charlotte;
Maecker‐Kolhoff, Britta;
Sauer, Martin;
Das, Anibh M.;
Beier, Rita

Publication type:

Article

Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 379, doi. 10.1002/jmd2.12302

By:

Healy, Lydia;
O'Shea, Meabh;
McNulty, Jennifer;
King, Graham;
Twomey, Eilish;
Treacy, Eileen;
Crushell, Ellen;
Hughes, Joanne;
Knerr, Ina;
Monavari, Ahmad Ardeshir

Publication type:

Article

A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 271, doi. 10.1002/jmd2.12289

By:

Hertzog, Ashley;
Selvanathan, Arthavan;
Halligan, Rebecca;
Fazio, Timothy;
de Jong, Gerard;
Bratkovic, Drago;
Bhattacharya, Kaustuv;
Tolun, Adviye Ayper;
Bennetts, Bruce;
Fisk, Katrina

Publication type:

Article

Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 351, doi. 10.1002/jmd2.12288

By:

Ahmad, Mohammad S. Z.;
Ahmed, Mahmoud;
Khedr, Milad;
Borgia, Alfredo;
Madden, Andrea;
Ranganath, Lakshminarayan R.;
Kaye, Stephen

Publication type:

Article

Method development and validation for analysis of phenylalanine, 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid in serum and urine.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 341, doi. 10.1002/jmd2.12287

By:

Hughes, Andrew T.;
Milan, Anna M.;
Shweihdi, Ella;
Gallagher, James;
Ranganath, Lakshminarayan

Publication type:

Article

Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency.

Published in:

2022

By:

Shakerdi, Loai A.;
McNulty, Jenny;
Gillman, Barbara;
McCarthy, Claire M.;
Ivory, Jessica;
Sheerin, Alison;
O'Byrne, James J.;
Donnelly, Jennifer C.;
Treacy, Eileen P.

Publication type:

Case Study

Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 330, doi. 10.1002/jmd2.12283

By:

Bin Sawad, Aseel;
Pothukuchy, Arti;
Badeaux, Mark;
Hodson, Victoria;
Bubb, Gillian;
Lindsley, Kristina;
Uyei, Jennifer;
Diaz, George A.

Publication type:

Article

Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.

Published in:

2022

By:

Bernhardt, Isaac;
Glamuzina, Emma;
Dowsett, Leah K.;
Webster, Dianne;
Knoll, Detlef;
Carpenter, Kevin;
Bennett, Michael J.;
Maeda, Michelle;
Wilson, Callum

Publication type:

Case Study

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 263, doi. 10.1002/jmd2.12229
Publication type:: Article