Detalles de la búsqueda
1.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37183190
2.
GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
Clin Genet
; 104(5): 598-603, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37489290
3.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
J Inherit Metab Dis
; 2023 Dec 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38069502
4.
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
5.
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
6.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1041-57, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25875215
7.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1059-74, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25875216
8.
[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
9.
[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 Hr
| MEDLINE | ID: mdl-23297514
10.
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
11.
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1155-6, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26077420
12.
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1157-8, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26077421
13.
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
14.
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
15.
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
16.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Nat Genet
; 44(5): 581-5, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22522421
Resultados
1 -
16
de 16
1
Próxima >
>>