Detalles de la búsqueda
1.
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
2.
[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 Croata
| MEDLINE | ID: mdl-26065284
3.
Newborn screening in southeastern Europe.
Mol Genet Metab
; 113(1-2): 42-5, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25174966
4.
[Congenital hyperinsulinism--novel insights into etiology, diagnosis and treatment]. / Kongenitalni hiperinzulinizam- -novosti o nastanku, dijagnosticiranju i lijecenju bolesti.
Lijec Vjesn
; 134(9-10): 286-92, 2012.
Artículo
en Croata
| MEDLINE | ID: mdl-23297514
5.
[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 Croata
| MEDLINE | ID: mdl-21644278
6.
Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.
Coll Antropol
; 34(1): 247-50, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-20437642
7.
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
8.
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
9.
Molecular basis and clinical presentation of classic galactosemia in a Croatian population.
J Pediatr Endocrinol Metab
; 31(1): 71-75, 2018 Jan 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-29252199
10.
Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature.
J Pediatr Endocrinol Metab
; 29(9): 1083-8, 2016 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27383869
11.
Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.
Orphanet J Rare Dis
; 10: 68, 2015 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-26025111
12.
The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
Hum Mutat
; 21(4): 399, 2003 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-12655552
13.
[Glutaric aciduria type 1: an example of the importance of early detection of so-called cerebral organic aciduria]. / Glutaricka acidurija tipa 1: primjer vaznosti ranog prepoznavanja tzv. cerebralnih organskih acidurija.
Lijec Vjesn
; 125(11-12): 312-6, 2003.
Artículo
en Croata
| MEDLINE | ID: mdl-15209027
14.
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.
Proc Natl Acad Sci U S A
; 101(12): 4234-9, 2004 Mar 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-15024124
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