Results 171 to 180 of about 9,849 (231)

The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease. [PDF]

Nutrients
Pretese R, Bonfanti C, Faraguna MC, Fantasia M, Crescitelli V, Barzaghi S, Botti M, Mezzanotti G, Gasperini S.   +8 more
europepmc   +1 more source

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement [PDF]

core   +1 more source

Structural and Biochemical Basis for Novel Mutations in Homozygous Israeli Maple Syrup Urine Disease Patients [PDF]

, 2004
Jacinta L. Chuang, Richard Wynn, C. Moss, Jiu-li Song, Jun Li, Nibal Awad, Hanna Mandel, David Chuang   +7 more
openalex   +1 more source

Maple syrup urine disease

, 2019
openaire   +2 more sources

Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease. [PDF]

Genet Med Open
Tumulak MJR, Padilla CD, Ongchangco JCE, Laurino MY, Lagarde JBB, Regalado ES, Legaspi AV, Ventura ER.   +7 more
europepmc   +1 more source

Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU). [PDF]

J Community Genet
Merencilla RJE, Maceda EBG, Basas JRU, Adducul RTY, Francisco ML, Licudo JV, de Castro-Hamoy LG.   +6 more
europepmc   +1 more source

Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD)

, 2009
Kristen J. Skvorak, Elizabeth Hager, Erland Arning, Teodoro Bottiglieri, Harbhajan S. Paul, Stephen C. Strom, Gregg E. Homanics, Qin Sun, Erwin E. W. Jansen, Cornelis Jakobs, William J. Zinnanti, K. Michael Gibson   +11 more
openalex   +2 more sources

The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands. [PDF]

Int J Neonatal Screen
Martens RC, Boelen A, van der Kemp MH, Bosch AM, Berghout EM, Weijman G, Zwaveling-Soonawala N, Verschoof-Puite RK, de Jonge R, Hannema SE, Bosmans JE, Heijboer AC.   +11 more
europepmc   +1 more source

Acute cerebellar ataxia in a patient with maple syrup urine disease: a case report [PDF]

Carolina Castro, Patrícia Pinto, Inês Carneiro, Patrícia Janeiro, Joana E. Coelho, Fátima Furtado, Sofia Quintas, Ana Gaspar   +7 more
openalex   +1 more source

Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease. [PDF]

Int J Mol Sci
Alotaibi AZ, AlMalki RH, Al Mogren M, Sebaa R, Alanazi M, Jacob M, Alodaib A, Alfares A, Abdel Rahman AM.   +8 more
europepmc   +1 more source