Works matching IS 21928312 AND DT 2020 AND VI 56 AND IP 1

Results: 15

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 1, doi. 10.1002/jmd2.12180
Publication type:: Article

Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 40, doi. 10.1002/jmd2.12165

By:

Wongkittichote, Parith;
Watson, James R.;
Leonard, Jennifer M.;
Toolan, Elizabeth R.;
Dickson, Patricia I.;
Grange, Dorothy K.

Publication type:

Article

Cerebrotendinous xanthomatosis‐associated diarrhea and response to chenodeoxycholic acid treatment.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 105, doi. 10.1002/jmd2.12163

By:

Brass, Eric P.;
Stelten, Bianca M.L.;
Verrips, Aad

Publication type:

Article

Neonatal carnitine concentrations in relation to gestational age and weight.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 95, doi. 10.1002/jmd2.12162

By:

Crefcoeur, Loek L.;
Sain‐van der Velden, Monique G. M.;
Ferdinandusse, Sacha;
Langeveld, Mirjam;
Maase, Rose;
Vaz, Frédéric M.;
Visser, Gepke;
Wanders, Ronald J.A.;
Wijburg, Frits A.;
Verschoof‐Puite, Rendelien K.;
Schielen, Peter C. J. I.

Publication type:

Article

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 34, doi. 10.1002/jmd2.12161

By:

Kiss, Sharmila;
Lee, Joy Yaplito;
Pitt, James;
MacGregor, Duncan;
Wallace, Jane;
Marty, Melanie;
Brown, Natasha J.

Publication type:

Article

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 27, doi. 10.1002/jmd2.12160

By:

Qian, Zhen;
Van den Eynde, Jef;
Heymans, Stephane;
Mertens, Luc;
Morava, Eva

Publication type:

Article

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 20, doi. 10.1002/jmd2.12159

By:

Abdel Ghaffar, Tawhida Y.;
Ng, Bobby G.;
Elsayed, Solaf M.;
El Naghi, Suzan;
Helmy, Sarah;
Mohammed, Nermine;
El Hennawy, Ahmed;
Freeze, Hudson H.

Publication type:

Article

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 14, doi. 10.1002/jmd2.12158

By:

Yaplito‐Lee, Joy;
Pai, Gautham;
Hardikar, Winita;
Hong, Kai M.;
Pitt, James;
Marum, Justine;
Amor, David J.

Publication type:

Article

Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 9, doi. 10.1002/jmd2.12157

By:

Jacobi‐Polishook, Talia;
Yosha‐Orpaz, Naama;
Sagi, Yair;
Lev, Dorit;
Lerman‐Sagie, Tally

Publication type:

Article

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 82, doi. 10.1002/jmd2.12156

By:

Nampoothiri, Sheela;
Yesodharan, Dhanya;
Bhattacherjee, Amrita;
Ahamed, Hisham;
Puri, Ratna Dua;
Gupta, Neerja;
Kabra, Madhulika;
Ranganath, Prajnya;
Bhat, Meenakshi;
Phadke, Shubha;
Radha Rama Devi, Akella;
Jagadeesh, Sujatha;
Danda, Sumita;
Sylaja, Padmavathy Narayana;
Mandal, Kausik;
Bijarnia‐Mahay, Sunita;
Makkar, Ravinder;
Verma, Ishwar Chander;
Dalal, Ashwin;
Ramaswami, Uma

Publication type:

Article

Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 3, doi. 10.1002/jmd2.12155

By:

Temple, Suzanna E. L.;
Sachdev, Rani;
Ellaway, Carolyn

Publication type:

Article

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 70, doi. 10.1002/jmd2.12153

By:

Bedoyan, Jirair K.;
Hage, Rosemary;
Shin, Ha Kyung;
Linard, Sharon;
Ferren, Edwin;
Ducich, Nicole;
Wilson, Kirkland;
Lehman, April;
Schillaci, Lori‐Anne;
Manickam, Kandamurugu;
Mori, Mari;
Bartholomew, Dennis;
DeBrosse, Suzanne;
Cohen, Bruce;
Parikh, Sumit;
Kerr, Douglas

Publication type:

Article

Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase‐deficient mice.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 58, doi. 10.1002/jmd2.12151

By:

Brown, Madalyn N.;
Gibson, K. Michael;
Schmidt, Michelle A.;
Walters, Dana C.;
Arning, Erland;
Bottiglieri, Teodoro;
Roullet, Jean‐Baptiste

Publication type:

Article

Defective platelet function in Niemann‐Pick disease type C1.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 46, doi. 10.1002/jmd2.12148

By:

Chen, Oscar C. W.;
Colaco, Alexandria;
Davis, Lianne C.;
Kiskin, Fedir N.;
Farhat, Nicole Y.;
Speak, Anneliese O.;
Smith, David A.;
Morris, Lauren;
Eden, Emily;
Tynan, Patricia;
Churchill, Grant C.;
Galione, Antony;
Porter, Forbes D.;
Platt, Frances M.

Publication type:

Article

Correction to: Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late‐Onset Pompe Disease: A Case Report.

Published in:: Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 112, doi. 10.1002/jmd2.12134
Publication type:: Article