Detalles de la búsqueda
1.
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.
J Inherit Metab Dis
; 45(6): 1048-1058, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35999711
2.
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.
Klin Padiatr
; 231(2): 74-79, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30870873
3.
The ethical framework for performing research with rare inherited neurometabolic disease patients.
Eur J Pediatr
; 176(3): 395-405, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28093642
4.
[Management of mucopolysaccharidosis type VI in adults]. / SMJERNICE ZA LIJECENJE MUKOPOLISAHARIDOZE (MPS) VI U ODRASLIH BOLESNIKA.
Lijec Vjesn
; 137(7-8): 213-5, 2015.
Artículo
en Hr
| MEDLINE | ID: mdl-26502669
5.
[POMPE DISEASE - GUIDELINES FOR DIAGNOSIS AND MANAGEMENT OF ADULT PATIENTS]. / POMPEOVA BOLEST - SMJERNICE ZA DIJAGNOZU I LIJECENJE ODRASLIH BOLESNIKA.
Lijec Vjesn
; 137(7-8): 216-8, 2015.
Artículo
en Hr
| MEDLINE | ID: mdl-26502670
6.
[Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy]. / Manjak lizosomske kisele lipaze u djece: vlastita iskustva i nova mogucnost enzimskoga nadomjesnog lijecenja.
Lijec Vjesn
; 137(3-4): 81-7, 2015.
Artículo
en Hr
| MEDLINE | ID: mdl-26065284
7.
Serum calprotectin: A circulating biomarker of the inflammatory state in Philadelphia-negative myeloproliferative neoplasms.
Blood Cells Mol Dis
; 79: 102344, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31302455
8.
Plasma biomarker identification in S-adenosylhomocysteine hydrolase deficiency.
Electrophoresis
; 32(15): 1970-5, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21732553
9.
Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations.
Coll Antropol
; 35(1): 181-5, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21661368
10.
[Vitamin B12 deficiency in children--underestimated danger in the light of new knowledge]. / Manjak vitamina B12 u djece --podcijenjena opasnost u svjetlu novih spoznaja.
Lijec Vjesn
; 133(1-2): 39-50, 2011.
Artículo
en Hr
| MEDLINE | ID: mdl-21644278
11.
Circulating YKL-40 in Philadelphia-negative myeloproliferative neoplasms.
Acta Clin Belg
; 76(1): 32-39, 2021 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-31455178
12.
Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings.
Eur J Paediatr Neurol
; 32: 66-72, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-33836415
13.
ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.
J Pediatr Endocrinol Metab
; 34(3): 389-393, 2021 Mar 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-33180048
14.
Current Status of Newborn Screening in Southeastern Europe.
Front Pediatr
; 9: 648939, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34026686
15.
Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report.
J Comput Assist Tomogr
; 34(5): 762-5, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20861782
16.
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hum Mutat
; 30(8): 1214-21, 2009 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-19472408
17.
Differential metabolic consequences of fumarate hydratase and respiratory chain defects.
Biochim Biophys Acta
; 1782(5): 287-94, 2008 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-18313410
18.
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Mol Genet Metab
; 97(3): 165-71, 2009 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-19394257
19.
Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.
Coll Antropol
; 33(4): 1255-8, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20102078
20.
Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies.
J Clin Pathol
; 72(7): 468-472, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-30878973