Works matching IS 21928312 AND DT 2022 AND VI 63 AND IP 6

Results: 16

Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report.

Published in:

2022

By:

Yokoi, Katsuyuki;
Nakajima, Yoko;
Sudo, Yuta;
Mariya, Tasuku;
Kawamura, Rie;
Tsutsumi, Makiko;
Inagaki, Hidehito;
Yoshikawa, Tetsushi;
Ito, Tetsuya;
Kurahashi, Hiroki

Publication type:

Case Study

3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 568, doi. 10.1002/jmd2.12332

By:

Hertzog, Ashley;
Selvanathan, Arthavan;
Pandithan, Dinusha;
Kim, Won‐Tae;
Kava, Maina P.;
Boneh, Avihu;
Coman, David;
Tolun, Adviye Ayper;
Bhattacharya, Kaustuv

Publication type:

Article

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 621, doi. 10.1002/jmd2.12331

By:

de Bode, Chiel J.;
Dogterom, Emma J.;
Rozeboom, Antoinette V. J.;
Langendonk, Janneke J.;
Wolvius, Eppo B.;
van der Ploeg, Ans T.;
Oussoren, Esmée;
Wagenmakers, Margreet A. E. M.

Publication type:

Article

Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 614, doi. 10.1002/jmd2.12330

By:

Alsahlawi, Zahra;
Aljishi, Emtithal;
Kheyami, Ammar;
Alekri, Ahmed;
Alwedaie, Sayed Mohammed Jawad

Publication type:

Article

Recent tPA administration can cause pseudo‐hyperargininemia and may mimic arginase deficiency or arginine supplementation.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 563, doi. 10.1002/jmd2.12328

By:

Cusmano‐Ozog, Kristina P.;
Renck, Alicia K.;
Tise, Christina G.

Publication type:

Article

Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 555, doi. 10.1002/jmd2.12327

By:

Ziadlou, Maryam;
MacDonald, Anita

Publication type:

Article

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant.

Published in:

2022

By:

Wong, Wui‐Kwan;
Balasubramaniam, Shanti;
Wong, Rachel S. H.;
Graf, Nicole;
Thorburn, David R.;
McFarland, Robert;
Troedson, Christopher

Publication type:

Case Study

The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 604, doi. 10.1002/jmd2.12325

By:

Tiivoja, Elis;
Reinson, Karit;
Muru, Kai;
Rähn, Kristi;
Muhu, Kristina;
Mauring, Laura;
Kahre, Tiina;
Pajusalu, Sander;
Õunap, Katrin

Publication type:

Article

β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 540, doi. 10.1002/jmd2.12324

By:

Pedersen, Jonas Jalili;
Duno, Morten;
Wibrand, Flemming;
Hammer, Christian;
Krag, Thomas;
Vissing, John

Publication type:

Article

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 593, doi. 10.1002/jmd2.12323

By:

Turk, Bela Rui;
Poisson, Laila Marie;
Nemeth, Christina Linnea;
Goodman, Jordan;
Moser, Ann B.;
Jones, Richard Owen;
Fatemi, Ali;
Singh, Jaspreet

Publication type:

Article

Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency.

Published in:

2022

By:

Stockdale, Christopher;
Bowron, Ann;
Appleton, Marie;
Richardson, Ruth;
Anderson, Mark

Publication type:

Case Study

Folic acid inhibits 5‐methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases.

Published in:

2022

By:

Akiyama, Tomoyuki;
Kuki, Ichiro;
Kim, Kiyohiro;
Yamamoto, Naohiro;
Yamada, Yumi;
Igarashi, Kazuya;
Ishihara, Tomohiko;
Hatano, Yuya;
Kobayashi, Katsuhiro

Publication type:

Case Study

Primary carnitine deficiency is a life‐long disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 524, doi. 10.1002/jmd2.12319

By:

Crefcoeur, Loek L.;
Melles, Mireille C.;
Bruning, Tobias A.;
Pereira, Rob Rodrigues;
Langendonk, Janneke G.

Publication type:

Article

Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 521, doi. 10.1002/jmd2.12286

By:

Grünert, Sarah Catharina;
Schumann, Anke;
Spiekerkoetter, Ute

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 519, doi. 10.1002/jmd2.12231
Publication type:: Article

Trends and outcomes of children, adolescents, and adults hospitalized with inherited metabolic disorders: A population‐based cohort study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 581, doi. 10.1002/jmd2.12320

By:

Hauser, Stephanie Isabelle;
Gregoriano, Claudia;
Koehler, Henrik;
Ebrahimi, Fahim;
Szinnai, Gabor;
Schuetz, Philipp;
Mueller, Beat;
Kutz, Alexander

Publication type:

Article