Search
| Leader | 00000nz a2200037n 45 0 | ||
|---|---|---|---|
| 001 | WKP|Q47150519 (VIAF cluster) (Authority/Source Record) | ||
| 003 | WKP | ||
| 005 | 20241221010721.0 | ||
| 008 | 241221nneanz||abbn n and d | ||
| 035 | ‡a (WKP)Q47150519 | ||
| 024 | ‡a 0000-0002-6847-745X ‡2 orcid | ||
| 035 | ‡a (OCoLC)Q47150519 | ||
| 043 | ‡c PT | ||
| 100 | 0 | ‡a Paula Garcia ‡9 fr ‡9 ast ‡9 sl ‡9 es | |
| 375 | ‡a 2 ‡2 iso5218 | ||
| 400 | 0 | ‡a Paula Garcia ‡c researcher ‡9 en | |
| 400 | 0 | ‡a Paula Garcia ‡c wetenschapper ‡9 nl | |
| 670 | ‡a Author's A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal | ||
| 670 | ‡a Author's A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria. | ||
| 670 | ‡a Author's Acute liver failure in under two year-olds--are there markers of metabolic disease on admission? | ||
| 670 | ‡a Author's Acute liver failure related to inherited metabolic diseases in young children | ||
| 670 | ‡a Author's Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. | ||
| 670 | ‡a Author's Clinical presentation and outcome in a series of 88 patients with the cblC defect. | ||
| 670 | ‡a Author's First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? | ||
| 670 | ‡a Author's Galactose Epimerase Deficiency: Expanding the Phenotype. | ||
| 670 | ‡a Author's Galsulfase | ||
| 670 | ‡a Author's Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI. | ||
| 670 | ‡a Author's Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency | ||
| 670 | ‡a Author's Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters | ||
| 670 | ‡a Author's Juvenile Pompe disease: retrospective clinical study | ||
| 670 | ‡a Author's Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects | ||
| 670 | ‡a Author's Phenotyping GABA transaminase deficiency: a case description and literature review. | ||
| 670 | ‡a Author's Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome. | ||
| 670 | ‡a Author's Trimethylaminuria | ||
| 670 | ‡a Author's Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients. | ||
| 670 | ‡a Author's Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections | ||
| 909 | ‡a (orcid) 000000026847745x ‡9 1 | ||
| 919 | ‡a phenotypinggabatransaminasedeficiencyacasedescriptionandliteraturereview ‡A Phenotyping GABA transaminase deficiency: a case description and literature review. ‡9 1 | ||
| 919 | ‡a pyridoxinedependentepilepsyduetoantiquitindeficiencyachievingafavourableoutcome ‡A Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome. ‡9 1 | ||
| 919 | ‡a trimethylaminuria ‡A Trimethylaminuria ‡9 1 | ||
| 919 | ‡a trimethylaminuriafishodorsyndromegenotypecharacterizationamongportuguesepatients ‡A Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients. ‡9 1 | ||
| 919 | ‡a zellwegersyndromewithseveremalnutritionimmunocompromisedstateandopportunisticinfections ‡A Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections ‡9 1 | ||
| 919 | ‡a frequentsplicingmutationandnovelmissensemutationscolortheupdatedmutationalspectrumofclassicgalactosemiainportugal ‡A A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal ‡9 1 | ||
| 919 | ‡a novelsucla2mutationinaportuguesechildassociatedwithmildmethylmalonicaciduria ‡A A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria. ‡9 1 | ||
| 919 | ‡a acuteliverfailureinunder2yearoldsaretheremarkersofmetabolicdiseaseonadmission ‡A Acute liver failure in under two year-olds--are there markers of metabolic disease on admission? ‡9 1 | ||
| 919 | ‡a acuteliverfailurerelatedtoinheritedmetabolicdiseasesinyoungchildren ‡A Acute liver failure related to inherited metabolic diseases in young children ‡9 1 | ||
| 919 | ‡a brainmrifindingsasanimportantdiagnosticclueinglutaricaciduriatype1 ‡A Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. ‡9 1 | ||
| 919 | ‡a clinicalpresentationandoutcomeinaseriesof88patientswiththecblcdefect ‡A Clinical presentation and outcome in a series of 88 patients with the cblC defect. ‡9 1 | ||
| 919 | ‡a 12unrelatedcasesofisolatedsedoheptulokinasedeficiencyabenigndisorder ‡A First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? ‡9 1 | ||
| 919 | ‡a galactoseepimerasedeficiencyexpandingthephenotype ‡A Galactose Epimerase Deficiency: Expanding the Phenotype. ‡9 1 | ||
| 919 | ‡a galsulfase ‡A Galsulfase ‡9 1 | ||
| 919 | ‡a galsulfasenaglazymetherapyininfantswithmucopolysaccharidosis6 ‡A Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI. ‡9 1 | ||
| 919 | ‡a identificationofanoveldeletioninsurf1geneheterogeneityinleighsyndromewithcoxdeficiency ‡A Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency ‡9 1 | ||
| 919 | ‡a intellectualdisabilitycoarsefacerelativemacrocephalyandcerebellarhypotrophyin2sisters ‡A Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters ‡9 1 | ||
| 919 | ‡a juvenilepompediseaseretrospectiveclinicalstudy ‡A Juvenile Pompe disease: retrospective clinical study ‡9 1 | ||
| 919 | ‡a mutationsinthe10linkedatp6ap2causeaglycosylationdisorderwithautophagicdefects ‡A Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects ‡9 1 | ||
| 946 | ‡a a ‡9 1 | ||
| 947 | ‡a PT ‡9 1 | ||
| 996 | ‡2 BNE|XX5551944 | ||
| 996 | ‡2 BNE|XX6447726 | ||
| 996 | ‡2 ISNI|0000000071000578 | ||
| 996 | ‡2 ISNI|0000000506343458 | ||
| 996 | ‡2 BNE|XX1116946 | ||
| 996 | ‡2 LNB|LNC10-000256077 | ||
| 996 | ‡2 LC|no2009063686 | ||
| 996 | ‡2 PTBNP|1178558 | ||
| 996 | ‡2 BIBSYS|90066529 | ||
| 996 | ‡2 BNE|XX5526307 | ||
| 996 | ‡2 ISNI|0000000068077443 | ||
| 996 | ‡2 ISNI|0000000069320599 | ||
| 996 | ‡2 NUKAT|n 96032781 | ||
| 996 | ‡2 BNCHL|10000000000000000283250 | ||
| 996 | ‡2 ISNI|0000000081593485 | ||
| 996 | ‡2 RERO|A027594890 | ||
| 996 | ‡2 ISNI|0000000440158216 | ||
| 996 | ‡2 J9U|987007269678405171 | ||
| 996 | ‡2 PTBNP|48100 | ||
| 996 | ‡2 DNB|1057048313 | ||
| 996 | ‡2 ISNI|0000000077437981 | ||
| 996 | ‡2 NYNYRILM|1197 | ||
| 996 | ‡2 J9U|987007337510705171 | ||
| 996 | ‡2 W2Z|1682591864111 | ||
| 996 | ‡2 SUDOC|279166540 | ||
| 996 | ‡2 BLBNB|000502441 | ||
| 996 | ‡2 NII|DA10630796 | ||
| 996 | ‡2 LC|no2017094886 | ||
| 996 | ‡2 CAOONL|ncf10949018 | ||
| 996 | ‡2 LC|nb2010027067 | ||
| 996 | ‡2 BLBNB|001011899 | ||
| 996 | ‡2 NKC|ola2010548395 | ||
| 996 | ‡2 BNF|17883111 | ||
| 996 | ‡2 DBC|87097992416585 | ||
| 996 | ‡2 LC|n 2002135020 | ||
| 996 | ‡2 BNE|XX1660850 | ||
| 996 | ‡2 NTA|328575615 | ||
| 996 | ‡2 BNE|XX6330655 | ||
| 996 | ‡2 LC|no2023004393 | ||
| 996 | ‡2 ISNI|000000007336237X | ||
| 996 | ‡2 BNC|981058611798206706 | ||
| 996 | ‡2 RERO|A026164701 | ||
| 996 | ‡2 BAV|495_59232 | ||
| 996 | ‡2 LC|n 50019659 | ||
| 996 | ‡2 BNF|15965540 | ||
| 996 | ‡2 ISNI|0000000448739947 | ||
| 996 | ‡2 RERO|A000172439 | ||
| 996 | ‡2 PLWABN|9810693841005606 | ||
| 996 | ‡2 ISNI|000000010915619X | ||
| 996 | ‡2 NTA|071416579 | ||
| 996 | ‡2 BNF|16607548 | ||
| 996 | ‡2 SUDOC|276866541 | ||
| 996 | ‡2 BLBNB|001601203 | ||
| 996 | ‡2 ISNI|0000000431928549 | ||
| 996 | ‡2 BNE|XX1603062 | ||
| 996 | ‡2 LC|no2018070846 | ||
| 996 | ‡2 LC|ns2015001610 | ||
| 996 | ‡2 SUDOC|266509215 | ||
| 996 | ‡2 BNCHL|10000000000000000247325 | ||
| 996 | ‡2 LC|no2024124440 | ||
| 996 | ‡2 LC|n 86853667 | ||
| 996 | ‡2 LC|no2021077680 | ||
| 996 | ‡2 W2Z|4038067 | ||
| 996 | ‡2 SUDOC|087865165 | ||
| 996 | ‡2 DNB|111698816X | ||
| 996 | ‡2 ISNI|0000000130038489 | ||
| 996 | ‡2 B2Q|0000089535 | ||
| 996 | ‡2 ISNI|000000051328568X | ||
| 996 | ‡2 DNB|1061840719 | ||
| 996 | ‡2 BNE|XX1536225 | ||
| 996 | ‡2 SELIBR|200566 | ||
| 996 | ‡2 LC|ns2021002914 | ||
| 996 | ‡2 ISNI|0000000504116040 | ||
| 996 | ‡2 DE633|pe140609 | ||
| 996 | ‡2 LIH|LNB:V-117116;=BD | ||
| 996 | ‡2 LC|no2010047226 | ||
| 996 | ‡2 NUKAT|n 2016177349 | ||
| 996 | ‡2 ISNI|0000000118026186 | ||
| 996 | ‡2 NDL|032674661 | ||
| 996 | ‡2 PTBNP|798645 | ||
| 996 | ‡2 LC|n 2016047194 | ||
| 996 | ‡2 BIBSYS|4038067 | ||
| 996 | ‡2 ISNI|0000000059655838 | ||
| 996 | ‡2 BNE|XX4883618 | ||
| 996 | ‡2 DE633|pe40211206 | ||
| 996 | ‡2 NLA|000035580961 | ||
| 996 | ‡2 BNE|XX5463348 | ||
| 996 | ‡2 SUDOC|262409445 | ||
| 996 | ‡2 BNC|981058526811106706 | ||
| 996 | ‡2 SUDOC|272723274 | ||
| 996 | ‡2 DNB|118804375 | ||
| 996 | ‡2 BIBSYS|1682591864111 | ||
| 996 | ‡2 SUDOC|26534347X | ||
| 996 | ‡2 LC|no2009193979 | ||
| 996 | ‡2 ISNI|0000000045223823 | ||
| 996 | ‡2 SUDOC|198402333 | ||
| 996 | ‡2 BNCHL|10000000000000000824842 | ||
| 996 | ‡2 DNB|1266619232 | ||
| 996 | ‡2 BNE|XX6493412 | ||
| 996 | ‡2 LC|no2010029870 | ||
| 996 | ‡2 SUDOC|235315583 | ||
| 996 | ‡2 LC|no 97054652 | ||
| 996 | ‡2 SUDOC|032620934 | ||
| 996 | ‡2 BNF|12361617 | ||
| 996 | ‡2 BNC|981058529623706706 | ||
| 996 | ‡2 LC|n 2007091105 | ||
| 996 | ‡2 ISNI|0000000410039945 | ||
| 996 | ‡2 SUDOC|260763438 | ||
| 996 | ‡2 CAOONL|ncf13691994 | ||
| 996 | ‡2 BNC|981060720922306706 | ||
| 996 | ‡2 DNB|1329648730 | ||
| 996 | ‡2 CAOONL|ncf10390557 | ||
| 996 | ‡2 LC|n 2020069585 | ||
| 996 | ‡2 BNE|XX911099 | ||
| 996 | ‡2 BNE|XX1302153 | ||
| 996 | ‡2 SUDOC|172789672 | ||
| 996 | ‡2 BIBSYS|2083723 | ||
| 996 | ‡2 LC|no2023051310 | ||
| 996 | ‡2 DNB|1177074605 | ||
| 996 | ‡2 ISNI|0000000049330773 | ||
| 996 | ‡2 LC|no2014144071 | ||
| 996 | ‡2 BNF|17881278 | ||
| 996 | ‡2 ISNI|0000000074088237 | ||
| 996 | ‡2 BNC|981058521711306706 | ||
| 996 | ‡2 ISNI|0000000077242471 | ||
| 996 | ‡2 DNB|143642448 | ||
| 997 | ‡a 0 0 lived 0 0 ‡9 1 |
