Results 81 to 90 of about 289 (112)

Differences Between Two Distinct Hypertrophic Cardiac Conditions: Fabry Disease versus Hypertrophic Cardiomyopathy. [PDF]

Arq Bras Cardiol
Akhan O, Kış M, Güzel T, Zoghi M.
europepmc   +1 more source

Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria. [PDF]

Nutrients, 2019
Pinto A, Almeida MF, MacDonald A, Ramos PC, Rocha S, Guimas A, Ribeiro R, Martins E, Bandeira A, Jackson R, van Spronsen F, Payne A, Rocha JC.   +12 more
europepmc   +1 more source

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? [PDF]

Nutrients
Pinto A, Ahring K, Almeida MF, Ashmore C, Bélanger-Quintana A, Burlina A, Coşkun T, Daly A, van Dam E, Dursun A, Evans S, Feillet F, Giżewska M, Gökmen-Özel H, Hickson M, Hoekstra Y, Ilgaz F, Jackson R, Leśniak A, Loro C, Malicka K, Patalan M, Rocha JC, Sivri S, Rodenburg I, van Spronsen F, Strączek K, Tokatli A, MacDonald A.   +28 more
europepmc   +1 more source

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients. [PDF]

Int J Mol Sci
Carvalho S, Santos JI, Moreira L, Duarte AJ, Gaspar P, Rocha H, Encarnação M, Ribeiro D, Barbosa Almeida M, Gonçalves M, David H, Matos L, Amaral O, Diogo L, Ferreira S, Santos C, Martins E, Prata MJ, Pereira de Almeida L, Alves S, Coutinho MF.   +20 more
europepmc   +1 more source

Structure and process in primary health care for children and spatial distribution of infant mortality. [PDF]

Rev Saude Publica
Dilélio AS, Natividade M, Facchini LA, Pereira M, Tomasi E.   +4 more
europepmc   +1 more source

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity. [PDF]

Nutrients
Pinto A, Ahring K, Almeida MF, Ashmore C, Bélanger-Quintana A, Burlina A, Coşkun T, Daly A, van Dam E, Dursun A, Evans S, Feillet F, Giżewska M, Gökmen-Özel H, Hickson M, Hoekstra Y, Ilgaz F, Jackson R, Leśniak A, Loro C, Malicka K, Patalan M, Rocha JC, Sivri S, Rodenburg I, van Spronsen F, Strączek K, Tokatli A, MacDonald A.   +28 more
europepmc   +1 more source

Cardiovascular Computed Tomography and Magnetic Resonance Imaging Guideline of the Brazilian Society of Cardiology and the Brazilian College of Radiology - 2024. [PDF]

Arq Bras Cardiol
Magalhães TA, Carneiro ACC, Moreira VM, Trad HS, Lopes MMU, Cerci RJ, Nacif MS, Schvartzman PR, Chagas ACP, Costa IBSDS, Schmidt A, Shiozaki AA, Montenegro ST, Piegas LS, Zapparoli M, Nicolau JC, Fernandes F, Hadlich MS, Ghorayeb N, Mesquita ET, Gonçalves LFG, Ramires FJA, Fernandes JL, Schwartzmann PV, Rassi S, Torreão JA, Mateos JCP, Beck-da-Silva L, Silva MC, Liberato G, Oliveira GMM, Feitosa Filho GS, Carvalho HDSM, Markman Filho B, Rocha RPS, Azevedo Filho CF, Taratsoutchi F, Coelho-Filho OR, Kalil Filho R, Hajjar LA, Ishikawa WY, Melo CA, Jatene IB, Albuquerque AS, Rimkus CM, Silva PSDD, Vieira TDR, Jatene FB, Azevedo GSAA, Santos RD, Monte GU, Ramires JAF, Bittencourt MS, Avezum A, Silva LSD, Abizaid A, Gottlieb I, Precoma DB, Szarf G, Sousa ACS, Pinto IMF, Medeiros FM, Caramelli B, Parga Filho JR, Santos TSGD, Prazeres CEED, Lopes MACQ, Avila LFR, Scanavacca MI, Gowdak LHW, Barberato SH, Nomura CH, Rochitte CE.   +72 more
europepmc   +1 more source

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. [PDF]

Arq Neuropsiquiatr
Lourenço CM, Sallum JMF, Pereira AM, Girotto PN, Kok F, Vilela DRF, Barron E, Pessoa A, Oliveira BM.   +8 more
europepmc   +1 more source

Brazilian Guidelines on evaluation and clinical management of Nephrolithiasis: Brazilian Society of Nephrology. [PDF]

J Bras Nefrol
Carvalho M, Matos ACC, Santos DRD, Barreto DV, Barreto FC, Rodrigues FG, Pietrobom IG, Luz LGD, Constancio NS, Gomes SA, Heilberg IP.   +10 more
europepmc   +1 more source

A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses. [PDF]

Orphanet J Rare Dis
Oliveira T, Ferraz R, Azevedo L, Quelhas D, Carneiro J, Jaeken J, Sousa SF.   +6 more
europepmc   +1 more source