Detalles de la búsqueda
1.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37580113
2.
Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.
Clin Genet
; 105(5): 499-509, 2024 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38221796
3.
Comparative analysis of gene and disease selection in genomic newborn screening studies.
J Inherit Metab Dis
; 2024 May 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38757337
4.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38499966
5.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36305855
6.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
J Inherit Metab Dis
; 2023 Jul 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37402126
7.
[Genomic newborn screening-research approaches, challenges, and opportunities]. / Genomisches Neugeborenenscreening Forschungsansätze, Herausforderungen und Chancen.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 66(11): 1232-1242, 2023 Nov.
Artículo
en Alemán
| MEDLINE | ID: mdl-37831095
8.
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
Hum Mutat
; 42(9): 1094-1100, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34157790
9.
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins.
Mol Genet Metab
; 134(1-2): 147-155, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34479793
10.
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
J Inherit Metab Dis
; 44(5): 1272-1287, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34145613
11.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34245036
12.
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Int J Mol Sci
; 22(6)2021 Mar 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-33802230
13.
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Genet Med
; 22(11): 1863-1873, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32699352
14.
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.
Mol Genet Metab
; 131(1-2): 163-170, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32675002
15.
High throughput newborn screening for aromatic Ê-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
J Inherit Metab Dis
; 43(3): 602-610, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31849064
16.
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Int J Mol Sci
; 21(22)2020 Nov 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-33203024
17.
Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment.
Neuropediatrics
; 50(1): 2-14, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30372766
18.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37272928
19.
The "Young Metabolic Society": An interest group for young professionals in the field of metabolic medicine.
J Inherit Metab Dis
; 44(4): 789, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34131931
20.
Absence of the RING domain in MID1 results in patterning defects in the developing human brain.
Life Sci Alliance
; 7(4)2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38238086