Results 101 to 110 of about 8,658 (196)

Rare biochemical & genetic conditions: clues for broader mechanistic insights. [PDF]

Cell Mol Life Sci
Mentis AA, Dalamaga M.
europepmc   +1 more source

3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach. [PDF]

BMJ Case Rep
Gulzar MM, Sarani ZA, Tariq M, Knerr I.
europepmc   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type. [PDF]

Heliyon
Mondesert E, Baud B, Roubertie A, Benoist JF, Grillet PE, Cristol JP, Francois-Heude MC, Schiff M, Badiou S.   +8 more
europepmc   +1 more source

Neonatal Presentation of a Case of Carbonic Anhydrase VA Deficiency. [PDF]

Cureus
Baheer Abdulwahhab S, Ahmed A, Ben Omran T.   +2 more
europepmc   +1 more source

Usefulness of levels of 2-methylbutyrylglycine and 2-ethylhydracrylic acid in urine for diagnosing 2-methylbutyrylglycinuria. [PDF]

Orphanet J Rare Dis
Liu H, Xu M, Chen M, Peng Y, Ye L, Yin YF, Miao JK.   +6 more
europepmc   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors. [PDF]

J Inherit Metab Dis
Lamari F, Rossignol F, Mitchell GA.
europepmc   +1 more source

An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease. [PDF]

Ital J Pediatr
Leo F, Barchi L, Russo G, Balestri E, Chesi E, Di Dio F, Garavelli L, Iughetti L, Gargano G.   +8 more
europepmc   +1 more source

Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia. [PDF]

JIMD Rep
Woidy M, Tsiakas K, Mahmud M, Eich G, Loos S, Lisfeld J, Schultz S, Tallarek AC, Hecher K, Huber TB, Muntau AC, Gramer G.   +11 more
europepmc   +1 more source

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature. [PDF]

BMC Pediatr
Yamashita F, Akamine S, Chong PF, Maeda K, Kawakami S, Lee S, Ishimura M, Murayama K, Sakai Y, Kira R.   +9 more
europepmc   +1 more source